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 FAM78A gene product has been provisionally designated FAM78A pending further characterization.
Similarity:
Belongs to the FAM78 family.
SWISS:
Q5JUQ0
Gene ID:
286336
Database links:
Entrez Gene: 286336 Human
Entrez Gene: 241303 Mouse
Entrez Gene: 499776 Rat
SwissProt: Q5JUQ0 Human
SwissProt: Q8C552 Mouse
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