FAM46A
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Protein FAM46A is a protein that in humans is encoded by the FAM46A gene. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.{{cite web|title=Fam46A (Protein Coding)|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46A|website=GeneCards|accessdate=18 February 2015}} The gene contains 6 introns, and is 6982 base pairs long.{{cite web|title=NCBI Gene|url=https://www.ncbi.nlm.nih.gov/gene/55603|website=NCBI|publisher=National Center for Biotechnology Information}} The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.{{cite web|title=FAM46A Ace View|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=FAM46A|website=AceView|publisher=NCBI|accessdate=3 March 2015}}
Expression
Expression of Fam46A is found to be exceptionally high in Placental tissue, Pineal Gland, and Pituitary Gland with low to moderate expression within Bone Marrow, Uterus, and Salivary glands.{{cite web|title=Fam46A Tissue Expression|url=http://www.proteinatlas.org/tissue|website=Protein Atlas|accessdate=13 March 2015}}
Protein
Function
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.{{cite journal | vauthors = Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G | title = Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs | journal = Annals of Human Genetics | volume = 72 | issue = Pt 1 | pages = 26–34 | date = January 2008 | pmid = 17803723 | doi = 10.1111/j.1469-1809.2007.00393.x | s2cid = 2087472 }}{{cite journal | vauthors = Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD | title = [VNTR polymorphism of C6orf37 in Chinese population] | journal = Zhejiang da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences | volume = 35 | issue = 4 | pages = 354–9 | date = July 2006 | doi = 10.3785/j.issn.1008-9292.2006.04.002 | pmid = 16924696 }}
References
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Further reading
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- {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Research | volume = 14 | issue = 7 | pages = 1324–32 | date = July 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
- {{cite journal | vauthors = Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C | title = Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population | journal = Clinica Chimica Acta; International Journal of Clinical Chemistry | volume = 368 | issue = 1–2 | pages = 155–9 | date = June 2006 | pmid = 16545789 | doi = 10.1016/j.cca.2005.12.043 }}
- {{cite journal|authorlink13=Huda Zoghbi | vauthors = 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 | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–14 | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 | s2cid = 13709685 | doi-access = free }}
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