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Rabbit Anti-Focadhesin antibody
Chromosome 9 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 characterized 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. The KIAA1797 gene product has been provisionally designated KIAA1797 pending further characterization.
Function:
Potential tumor suppressor in gliomas.
Subunit:
Interacts with VCL.
Subcellular Location:
Membrane. Cell junction; focal adhesion. Colocalizes with VCL in astrocytes.
Tissue Specificity:
Ubiquitous. High expression in brain followed by testis, muscle, pancreas, heart, ovary, small intestine, placenta, prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes. Expression is reduced in most glioblastomas and all glioblastoma cell lines.
SWISS:
Q5VW36
Gene ID:
54914
Database links:
Entrez Gene: 54914 Human
SwissProt: Q5VW36 Human
Unigene: 136247 Human
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