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 C9orf7 gene product has been provisionally designated C9orf7 pending further characterization.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
Similarity:
Belongs to the calcium channel flower family.
SWISS:
Q9UGQ2
Gene ID:
11094
Database links:
Entrez Gene: 11094 Human
Entrez Gene: 381356 Mouse
Entrez Gene: 296599 Rat
Omim: 613104 Human
SwissProt: Q9UGQ2 Human
SwissProt: Q8BG21 Mouse
SwissProt: D4A9I3 Rat
Unigene: 62003 Human
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