基因名:
PHF24
产品别名:
GINIP; PHF24; PHD finger protein 24; PHD finger protein 24; KIAA1045蛋白;
背景信息:
KIAA1045 is a 400 amino acid protein that contains one PHD-type zinc finger. The gene encoding KIAA1045 maps to human chromosome 9p13.3. Chromosome 9 houses over 900 genes and comprises nearly 4% of the human genome. Considered to play a role in gender determination, deletion of the distal portion of chromosome 9p can lead to development of male to female sex reversal, the phenotype of a female with a male XY 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 a BCR-ABL fusion protein often found in leukemias.