Uncharacterized protein KIAA0825 (KIAA0825)

Uncharacterized protein KIAA0825 is encoded by the KIAA0825 gene located on chromosome 5q15. Its function remains largely unknown, but it is expressed at higher levels in the brain, adrenal gland, and thyroid. KIAA0825 has been implicated in human disease as a genetic risk factor for Type II diabetes and as a rare cause of autosomal recessive postaxial polydactyly[1][2][4]. Genetic studies have shown biallelic loss-of-function variants in KIAA0825 result in limb malformations, and mouse models implicate its ortholog in limb development and glucose tolerance[2]. One isoform of the protein contains the highly conserved DUF4495 domain and is predicted to shuttle between the nucleus and cytoplasm[1]. Currently, no drugs are known to target KIAA0825, and its precise molecular mechanisms remain undelineated.

Other names

C5orf36PAPA10DKFZp686F0372MGC34713