Description
Product Characteristics:
C9orf153 is a 101 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf153 maps to human chromosome 9q21.33. 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.
Synonyms: bA507D14.1, Chromosome 9 open reading frame 153, Hypothetical protein LOC389766, MGC131702, Uncharacterized protein C9orf153,
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