Protein FAM46A is a protein that in humans is encoded by the FAM46Agene. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.[1] The gene contains 6 introns, and is 6982 base pairs long.[2] The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.[3]
The function of Fam46A is currently unknown but there is a Variable Number Tandem Repeat in the first exon of Fam46A that has been explored within various populations and have been attempted to be linked to various retinal diseases as well as colon cancer.[6][7]
↑Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G (January 2008). "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs". Annals of Human Genetics. 72 (Pt 1): 26–34. doi:10.1111/j.1469-1809.2007.00393.x. PMID17803723.
↑Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD (July 2006). "[VNTR polymorphism of C6orf37 in Chinese population]". Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences. 35 (4): 354–9. PMID16924696.
Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C (June 2006). "Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population". Clinica Chimica Acta; International Journal of Clinical Chemistry. 368 (1–2): 155–9. doi:10.1016/j.cca.2005.12.043. PMID16545789.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID16713569.
