# FAM46A

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{{Short description|Protein-coding gene in the species Homo sapiens}}
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'''Protein FAM46A''' is a [protein](/source/protein) that in humans is encoded by the ''FAM46A'' [gene](/source/gene). Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.<ref>{{cite web|title=Fam46A (Protein Coding)|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46A|website=GeneCards|accessdate=18 February 2015}}</ref> The gene contains 6 [introns](/source/introns), and is 6982 base pairs long.<ref>{{cite web|title=NCBI Gene|url=https://www.ncbi.nlm.nih.gov/gene/55603|website=NCBI|publisher=National Center for Biotechnology Information}}</ref> The transcribed [mRNA](/source/mRNA) is 2231 [base pairs](/source/base_pairs) long and contains  2 [exons](/source/exons), 589 and 1128 base pairs, with 4 alternative splice isoforms.<ref>{{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}}</ref>

== Expression ==
Expression of Fam46A is found to be exceptionally high in [Placental](/source/Placental) tissue, [Pineal Gland](/source/Pineal_Gland), and [Pituitary Gland](/source/Pituitary_Gland) with low to moderate expression within [Bone Marrow](/source/Bone_Marrow), [Uterus](/source/Uterus), and [Salivary glands](/source/Salivary_glands).<ref>{{cite web|title=Fam46A Tissue Expression|url=http://www.proteinatlas.org/tissue|website=Protein Atlas|accessdate=13 March 2015}}</ref>
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== Protein ==
The human FAM46A protein is 461 [Amino Acids](/source/Amino_Acids) long.<ref>{{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}}</ref>

== Function ==
The function of Fam46A is currently unknown but there is a [Variable Number Tandem Repeat](/source/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](/source/retinal_diseases) as well as [colon cancer](/source/colon_cancer).<ref>{{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 }}</ref><ref>{{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 }}</ref>

== 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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Adapted from the Wikipedia article [FAM46A](https://en.wikipedia.org/wiki/FAM46A) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/FAM46A?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.