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Ace+Method+Development+Kits
Numéro de catalogue:
(BOSSBS-0097R-CY5.5)
Fournisseur:
Bioss
Description:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0097R-A647)
Fournisseur:
Bioss
Description:
This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11945R-HRP)
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 C12orf52 gene product has been provisionally designated C12orf52 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11080R-HRP)
Fournisseur:
Bioss
Description:
Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11722R-A680)
Fournisseur:
Bioss
Description:
Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin 1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterised by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15297R-A350)
Fournisseur:
Bioss
Description:
C8orf58 (chromosome 8 open reading frame 58) is a 365 amino acid protein that exists as two alternatively spliced isoforms, which are encoded by a gene that maps to human chromosome 8p21. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15330R-A555)
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
Numéro de catalogue:
(BOSSBS-9948R-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 C12orf42 gene product has been provisionally designated C12orf42 pending further characterisation.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11492R-A750)
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 Signalling. 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 tumour suppressors by inhibiting anchorage-independent growth and invasion, but mutation of these receptors provides a potential mechanism for tumourigenicity. 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-15213R-FITC)
Fournisseur:
Bioss
Description:
C6orf106 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 C6orf106 gene product has been provisionally designated C6orf106 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-15214R-A350)
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-15297R-A750)
Fournisseur:
Bioss
Description:
C8orf58 (chromosome 8 open reading frame 58) is a 365 amino acid protein that exists as two alternatively spliced isoforms, which are encoded by a gene that maps to human chromosome 8p21. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1813R-A350)
Fournisseur:
Bioss
Description:
Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation. Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13587R-A488)
Fournisseur:
Bioss
Description:
Nolz 1 is a 646 amino acid nuclear protein that is thought to function as a transcriptional repressor and is highly expressed in developing striatum. Additionally, Nolz-1 has been suggested to play a role in neural differentiation. A member of the Elbow/Noc family, Nolz-1 exists as three alternatively spliced isoforms and contains one C2H2-type zinc finger. The gene encoding Nolz-1 maps to human chromosome 10, which makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9611R-FITC)
Fournisseur:
Bioss
Description:
CLLD6, is a 196 amino acid protein that contains one B30.2/SPRY domain. Expression of CLLD6 is found at highest levels in heart, skeletal muscle and testis, with lower levels found in thymus, peripheral blood leukocytes, lymph node and bone marrow. Existing as two alternatively spliced isoforms, CLLD6 maps to human chromosome 13, which comprises nearly 4% of human DNA and contains about 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.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11213R-FITC)
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
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