KIAA2026 is a 2,103 amino acid protein that exists as two alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 9p24.1. Consisting of about 145 million bases, chromosome 9 makes up approximately 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.
SWISS:
Q5HYC2
Gene ID:
158358
Database links:
Entrez Gene: 158358 Human
SwissProt: Q5HYC2 Human
Unigene: 535060 Human
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