C9orf25 (chromosome 9 open reading frame 25) is a 185 amino acid protein that exists as seven alternatively spliced isoforms that are encoded by a gene located on human chromosome 9. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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.
Similarity:
Belongs to the FAM219 family.
SWISS:
Q8IW50
Gene ID:
203259
Database links:
Entrez Gene: 203259 Human
Entrez Gene: 71901 Mouse
Entrez Gene: 691024 Rat
SwissProt: Q8IW50 Human
SwissProt: Q9D772 Mouse
Unigene: 493771 Human
Unigene: 39215 Mouse
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