Biology:FAM46A
 Generic protein structure example |
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.[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]
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.[4]
Protein
The human FAM46A protein is 461 Amino Acids long.[5]
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.[6][7]
References
- ↑ "Fam46A (Protein Coding)". GeneCards. https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46A. Retrieved 18 February 2015.
- ↑ "NCBI Gene". National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene/55603.
- ↑ "FAM46A Ace View". NCBI. https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=FAM46A. Retrieved 3 March 2015.
- ↑ "Fam46A Tissue Expression". http://www.proteinatlas.org/tissue. Retrieved 13 March 2015.
- ↑ "FAM46A Ace View". NCBI. https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=FAM46A. Retrieved 3 March 2015.
- ↑ "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. January 2008. doi:10.1111/j.1469-1809.2007.00393.x. PMID 17803723.
- ↑ "[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. July 2006. doi:10.3785/j.issn.1008-9292.2006.04.002. PMID 16924696.
Further reading
- "Functional proteomics mapping of a human signaling pathway". Genome Research 14 (7): 1324–32. July 2004. doi:10.1101/gr.2334104. PMID 15231748.
- "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. June 2006. doi:10.1016/j.cca.2005.12.043. PMID 16545789.
- "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. May 2006. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
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