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Numéro de catalogue: (BOSSBS-2775R-A555)

Fournisseur:  Bioss
Description:   Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways. Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. In this way LIMK1 regulates several actin-dependent biological processes including cell motility, cell cycle progression, and differentiation. Phosphorylates TPPP on serine residues, thereby promoting microtubule disassembly. Stimulates axonal outgrowth and may be involved in brain development. Isoform 3 has a dominant negative effect on actin cytoskeletal changes. Required for atypical chemokine receptor ACKR2-induced phosphorylation of cofilin (CFL1).
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9487R-A750)

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 histocompatibility 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-9487R-A647)

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping 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

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping 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-11776R-A350)

Fournisseur:  Bioss
Description:   E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11776R-A555)

Fournisseur:  Bioss
Description:   E6-associating protein is a component of the ubiquitin-mediated proteolytic pathway, which selectively targets proteins for degradation by the 26S proteasome. Ubiquitin (Ub) is directly conjugated to protein substrates by the transfer of Ub from an E2 ubiquitin conjugating enzyme to the target protein. This conjugation is facilitated by the enzymatic activity of E3 ubiquitin ligase family members such as E6-AP. Several substrates of E6-AP have been identified and include the tumor suppressor protein p53 and the mammalian homolog of Rad23, HHR23A. Previous studies have indicated that E6-AP associates with the human papillomavirus E6 oncogene, which complexes with p53 and thereby potentiates E6-AP mediated ubiquitination of p53. Genetic mutations that impair E6-AP activity result in the accumulation of p53 in the cytoplasm, and, in many instances, these mutations are associated with the development of the rare neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe motor dysfunction and mental retardation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11003R-A350)

Fournisseur:  Bioss
Description:   Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The FAM62A gene product has been provisionally designated FAM62A pending further characterization.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9947R-A750)

Fournisseur:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf40 gene product has been provisionally designated C12orf40 pending further characterisation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11213R-A488)

Fournisseur:  Bioss
Description:   The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic Alpha/Beta 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. LRRTM1 (leucine rich repeat transmembrane neuronal 1) is a 522 amino acid single-pass type I membrane protein that localizes to the endoplasmic reticulum and contains ten LRR repeats. Expressed predominately in forebrain tissue, LRRTM1 is thought to be involved in the development of forebrain structures, specifically by influencing axon trafficking, as well as neuronal differentiation and connectivity. Human LRRTM1 shares 96% amino acid identity with its mouse counterpart, suggesting a conserved role between species. Defects in the gene encoding LRRTM1 may be associated with the pathogenesis of several common neurodevelopmental disorders.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15330R-A488)

Fournisseur:  Bioss
Description:   C9orf5 (chromosome 9 open reading frame 5), also known as CG2, is a 911 amino acid multi-pass membrane protein that is widely expressed and exists as four alternatively spliced isoforms. The gene encoding C9orf5 maps to human chromosome 9, which consists of about 145 million bases, represents 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

Fournisseur:  Bioss
Description:   The UNC5H family of proteins act as transmembrane receptors for netrin-1 and play a crucial role in axon guidance and migration of neural cells. In fact, UNC5H receptors express widely in cells that migrate, where they bind the G protein G Alpha 1-2 to inhibit G protein signaling. Additionally, UNC5H receptors induce apoptosis when cleaved by a caspase, producing an intracellular fragment containing a death domain, but this activity is blocked by the binding of netrin-1. The expression of UNC5H receptors is down-regulated in multiple cancers, including colorectal, breast, ovary, uterus, stomach, lung, and kidney cancers. Hence, in the absence of netrin-1, UNC5H receptors act as tumor suppressors by inhibiting anchorage-independent growth and invasion, but mutation of these receptors provides a potential mechanism for tumorigenicity. UNC5H2, also designated unc-5 homolog B or p53-regulated receptor for death and life protein 1 (p53RDL1) is highly expressed in brain with lower levels of expression observed in developing lung, cartilage, kidney and hematopoietic and immune tissues.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15214R-A680)

Fournisseur:  Bioss
Description:   C6orf115 is a 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. The C6orf115 gene product has been provisionally designated C6orf115 pending further characterization.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9210R-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. The monocyte/neutrophil elastase inhibitor gene, SERPINB1, belongs to the Ov-serpin family (ovalbumin-related serpins). Human SerpinB1, also designated monocyte/neutrophil elastase inhibitor (M/NEI) or leukocyte elastase inhibitor (LEI), is a cytoplasmic protein which acts as a fast-acting stoichiometric proteinase inhibitor that regulates the activity of neutrophil elastase (NE), cathepsin-G and proteinase-3. There are four homologous genes in mouse designated SerpinB1a, SerpinB1b, SerpinB1c and the pseudogene, Serpinb1-ps1. The three protein-coding genes share significant sequence identity, however SerpinB1a (also designated EIA) has been characterized as the functional ortholog of human SerpinB1.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9951R-A750)

Fournisseur:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf53 gene product has been provisionally designated C12orf53 pending further characterisation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9951R-A680)

Fournisseur:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf53 gene product has been provisionally designated C12orf53 pending further characterisation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8562R-A750)

Fournisseur:  Bioss
Description:   The gene encoding the Mixed-Lineage Leukemia (MLL) proteins is located on chromosome 11q23. Chromosomal translocations involving band 11q23 result in rogue activator proteins that are associated with approximately 10% of patients with acute lymphoblastic leukemia (ALL) and 5% of patients with acute myeloid leukemia (AML). Most patients affected are less than 1 year of age. MLLT11, also known as mixed-lineage leukemia translocated to 11 or AF1q, is a 90 amino acid MLL fusion partner. Based on the expression patterns of MLLT11, it is thought that MLLT11 plays a role in leukemogenesis and, specifically, the progression of acute monocytic leukemia (AML). Also, expressed in embryonic brain cortex, MLLT11 is upregulated during neuronal differentiation and is thought to play a role in the development of the central nervous system. Finally, MLLT11 has been shown to be differentially expressed in highly metastatic cells, in comparison with non-metastatic parent cells. Such findings suggest a role of MLLT11 in tumorigenesis.
UOM:  1 * 100 µl
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