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Numéro de catalogue: (BOSSBS-11330R-A350)

Fournisseur:  Bioss
Description:   There are three sorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, the homologous SorCS1 and SorCS2 genes and the SorCS3 gene are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS1 is a type 1 receptor containing a VPS10P domain and a leucine-rich domain. Alternative splicing of human SorCS1 results in four isoforms with different cytoplasmic tails and differential expression in tissues. Human SorCS1 is detected in fetal and infant brain and in fetal retina. Alternative splicing of murine SorCS1 also results in four isoforms. Murine isoform 1 is highly expressed in brain and at lower levels in heart, liver and kidney. It is detected in newborn mouse brain and in adult olfactory bulb and cerebral cortex. Murine isoform 2 is highly expressed in liver and at lower levels in heart, brain, kidney and testis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11951R-CY3)

Fournisseur:  Bioss
Description:   The Per-Arnt-Sim (PAS) domain was identified as a 270 amino acid motif that mediates associations between various PAS family transcription factors. Several PAS domain family members have been identified including AhR, Arnt 1, and single-minded proteins (SIM1 and SIM2). The aromatic (aryl) hydrocarbon receptor, AhR, is a ligand dependent transcription factor that interacts with specific DNA sequences termed xenobiotic responsive elements (XREs) to activate several genes including CYP1A1, glutathione S-transferase Ya subunit and DT-diaphorase. The Ah receptor nuclear translocator protein 1 (Arnt 1) is required for ligand- dependent nuclear translocation of the Ah receptor and is also necessary for Ah receptor binding to the XRE element. Both SIM1 and SIM2 inhibit AhR/Arnt dimerization, thus inhibiting transcriptional activation. The SIM genes are thought to be involved in the directing and regionalization of tissues during development and the SIM2 gene, which is located on chromosome 21, is a candidate for the gene responsible for Down syndrome.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The Per-Arnt-Sim (PAS) domain was identified as a 270 amino acid motif that mediates associations between various PAS family transcription factors. Several PAS domain family members have been identified including AhR, Arnt 1, and single-minded proteins (SIM1 and SIM2). The aromatic (aryl) hydrocarbon receptor, AhR, is a ligand dependent transcription factor that interacts with specific DNA sequences termed xenobiotic responsive elements (XREs) to activate several genes including CYP1A1, glutathione S-transferase Ya subunit and DT-diaphorase. The Ah receptor nuclear translocator protein 1 (Arnt 1) is required for ligand- dependent nuclear translocation of the Ah receptor and is also necessary for Ah receptor binding to the XRE element. Both SIM1 and SIM2 inhibit AhR/Arnt dimerization, thus inhibiting transcriptional activation. The SIM genes are thought to be involved in the directing and regionalization of tissues during development and the SIM2 gene, which is located on chromosome 21, is a candidate for the gene responsible for Down syndrome.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Semaphorins are a family of cell surface and secreted proteins that are conserved from insects to humans. Members of this family of proteins are approximately 750 amino acids in length (including signal sequences) and are defined by a conserved extracellular “semaphorin” domain of approximately 500 amino acids containing 14-16 cysteines, blocks of conserved sequences and no obvious repeats. The transmembrane semaphorins are characterized by an additional 80 amino acid transmembrane domain and an 80-110 amino acid cytoplasmic domain. Secreted and cell-bound semaphorins chemically attract and repel the growth of neural axons, guiding the development of intricate networks of neural tissue. SEMA4B (semaphorin-4B), also known as SemC or SEMAC, is an 832 amino acid single-pass type I membrane protein that belongs to the semaphorin family and exists as two alternatively spliced isoforms. Containing one Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a single sema domain, SEMA4B is encoded by a gene located on human chromosome 15.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8428R-A555)

Fournisseur:  Bioss
Description:   BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-2700R-A350)

Fournisseur:  Bioss
Description:   Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12311R-A555)

Fournisseur:  Bioss
Description:   The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The primary function of these motifs is to provide a versatile structural framework to mediate the formation of protein-protein interactions. LRRs are present in a variety of proteins with diverse structure and function, including innate immunity and nervous system development. Several human diseases are associated with mutations in genes encoding LRR-containing proteins. LRRC23 (leucine-rich repeat-containing protein 23), also known as leucine-rich protein B7, is a 343 amino acid protein that contains eight LRR (leucine-rich) repeasts and one LRRCT domain. LRRC23 exists as two alternatively spliced isoforms and is encoded by a gene mapping to chromosome 12.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-1020R-A680)

Fournisseur:  Bioss
Description:   Involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors such as ELK-1. Phosphorylates EIF4EBP1; required for initiation of translation. Phosphorylates microtubule-associated protein 2 (MAP2). Phosphorylates SPZ1. Phosphorylates heat shock factor protein 4(HSF4) (By similarity). Highest levels within the nervous system, expressed in different tissues, mostly in intestine, placenta and lung. Increased expression during development. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. Binds both upstream activators and downstream substrates in multimolecular complexes. Found in a complex with at least BRAF, HRAS, MAP2K1/MEK1, MAPK3 and RGS14. Interacts with TPRBy similarity. Interacts with ADAM15, ARRB2, CANX, DAPK1 (via death domain), HSF4, IER3, MAP2K1/MEK1, NISCH, and SGK1By similarity. Interacts with MORG1, PEA15 and MKNK2. MKNK2 isoform 1 binding prevents from dephosphorylation and inactivation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-1020R-A750)

Fournisseur:  Bioss
Description:   Involved in both the initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors such as ELK-1. Phosphorylates EIF4EBP1; required for initiation of translation. Phosphorylates microtubule-associated protein 2 (MAP2). Phosphorylates SPZ1. Phosphorylates heat shock factor protein 4(HSF4) (By similarity). Highest levels within the nervous system, expressed in different tissues, mostly in intestine, placenta and lung. Increased expression during development. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. Binds both upstream activators and downstream substrates in multimolecular complexes. Found in a complex with at least BRAF, HRAS, MAP2K1/MEK1, MAPK3 and RGS14. Interacts with TPRBy similarity. Interacts with ADAM15, ARRB2, CANX, DAPK1 (via death domain), HSF4, IER3, MAP2K1/MEK1, NISCH, and SGK1By similarity. Interacts with MORG1, PEA15 and MKNK2. MKNK2 isoform 1 binding prevents from dephosphorylation and inactivation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9212R-A647)

Fournisseur:  Bioss
Description:   The serine proteinase inhibitors (serpins) compose a superfamily of proteins with a diverse set of functions, including the control of blood coagulation, complement activation, programmed cell death and development. Serpins are secreted glycoproteins that contain a stretch of peptide that mimics a true substrate for a corresponding serine protease. SerpinB11 (serpin peptidase inhibitor, clade B (ovalbumin), member 11), also known as EPIPIN or SERPIN11, is a 392 amino acid cytoplasmic protein that belongs to the Ov-serpin subfamily and serpin family. Like other members of the serpin family, SerpinB11 has been identified as a noninhibitory intracellular protein. The gene encoding SerpinB11 maps to human chromosome 18, which houses over 300 protein-coding genes and contains nearly 76 million bases. There are a variety of diseases associated with defects in chromosome 18-localized genes, some of which include Trisomy 18 (also known as Edwards syndrome), Niemann-Pick disease, hereditary hemorrhagic telangiectasia, erythropoietic protoporphyria and follicular lymphomas.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. Through phosphorylation of the anti-apoptotic protein MCL1, may control cell apoptosis in response to growth factors deprivation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11330R-CY7)

Fournisseur:  Bioss
Description:   There are three sorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, the homologous SorCS1 and SorCS2 genes and the SorCS3 gene are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS1 is a type 1 receptor containing a VPS10P domain and a leucine-rich domain. Alternative splicing of human SorCS1 results in four isoforms with different cytoplasmic tails and differential expression in tissues. Human SorCS1 is detected in fetal and infant brain and in fetal retina. Alternative splicing of murine SorCS1 also results in four isoforms. Murine isoform 1 is highly expressed in brain and at lower levels in heart, liver and kidney. It is detected in newborn mouse brain and in adult olfactory bulb and cerebral cortex. Murine isoform 2 is highly expressed in liver and at lower levels in heart, brain, kidney and testis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9402R-A350)

Fournisseur:  Bioss
Description:   CARKD is a 347 amino acid protein that belongs to the YjeF family and exists as three alternatively spliced isoforms. Containing one YjeF C-terminal domain, CARKD is encoded by a gene that maps to human chromosome 13q34. Chromosome 13 contains around 114 million base pairs and 400 genes. Key tumor suppressor genes on chromosome 13 include the breast cancer susceptibility gene, BRCA2, and the RB1 (retinoblastoma) gene. RB1 encodes a crucial tumor suppressor protein which, when defective, leads to malignant growth in the retina and has been implicated in a variety of other cancers. The gene SLITRK1, which is associated with Tourette syndrome, is on chromosome 13. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is quite deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15350R-A680)

Fournisseur:  Bioss
Description:   C9orf96, also known as Protein kinase-like protein SgK071, is a 680 amino acid protein that belongs to the Ser/Thr protein kinase family of the protein kinase superfamily. There are three isoforms of C9orf96 that are produced as a result of alternative splicing events. The gene encoding C9orf96 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12311R)

Fournisseur:  Bioss
Description:   The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The primary function of these motifs is to provide a versatile structural framework to mediate the formation of protein-protein interactions. LRRs are present in a variety of proteins with diverse structure and function, including innate immunity and nervous system development. Several human diseases are associated with mutations in genes encoding LRR-containing proteins. LRRC23 (leucine-rich repeat-containing protein 23), also known as leucine-rich protein B7, is a 343 amino acid protein that contains eight LRR (leucine-rich) repeasts and one LRRCT domain. LRRC23 exists as two alternatively spliced isoforms and is encoded by a gene mapping to chromosome 12.
UOM:  1 * 100 µl
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