Description
Product Characteristics:
AKD1 is a 1,911 amino acid coiled-coil protein belonging to the adenylate kinase family. AKD1 exists as six alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 6q21. Chromosome 6 makes up nearly 6 % of the human genome and contains 170 million base pairs, which encode 1,200 genes. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. A bipolar disorder susceptibility locus is also linked to the q arm of chromosome 6. The PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins are located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6.
Synonyms: adenylate kinase domain containing 1, adenylate kinase domain containing 2, Adenylate kinase domain-containing protein 1, Adenylate kinase domain-containing protein 2, AKD1, AKD1_HUMAN, AKD2, C6orf224, chromosome 6 open reading frame 199, chromosome 6 open reading frame 224 Gm234, Gm7127, RP1-70A9.
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