释义 |
- Clinical significance
- References
- Further reading
- External links
{{Infobox_gene}}ATP-binding cassette sub-family A member 13 also known as ABCA13 is a protein that in humans is encoded by the ABCA13 gene on chromosome 7. It belongs to the wide ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family.[2] Clinical significance One study suggests that rare variations and mutations of the gene may be linked to psychiatric disorders such as schizophrenia, bipolar disorder, and depression.[3] References 1. ^1 {{cite journal | vauthors = Vasiliou V, Vasiliou K, Nebert DW | title = Human ATP-binding cassette (ABC) transporter family | journal = Human Genomics | volume = 3 | issue = 3 | pages = 281–90 | date = April 2009 | pmid = 19403462 | pmc = 2752038 | doi = 10.1186/1479-7364-3-3-281 }} 2. ^1 {{cite journal | vauthors = Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF, Condie A, White A, Hawkins W, McGhee K, van Beck M, MacIntyre DJ, Starr JM, Deary IJ, Visscher PM, Porteous DJ, Cannon RE, St Clair D, Muir WJ, Blackwood DH | title = A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression | journal = American Journal of Human Genetics | volume = 85 | issue = 6 | pages = 833–46 | date = December 2009 | pmid = 19944402| pmc = 2790560| doi = 10.1016/j.ajhg.2009.11.003 | laysummary = http://news.bbc.co.uk/2/hi/uk_news/scotland/edinburgh_and_east/8380341.stm | laysource = BBC News }}
[1][2] }} Further reading {{refbegin}}- {{cite journal | vauthors = Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ | title = Shotgun sequencing of the human transcriptome with ORF expressed sequence tags | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 7 | pages = 3491–6 | date = March 2000 | pmid = 10737800 | pmc = 16267 | doi = 10.1073/pnas.97.7.3491 }}
- {{cite journal | vauthors = de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM | title = A common variant in DRD3 receptor is associated with autism spectrum disorder | journal = Biological Psychiatry | volume = 65 | issue = 7 | pages = 625–30 | date = April 2009 | pmid = 19058789 | doi = 10.1016/j.biopsych.2008.09.035 }}
{{refend}} External links - {{UCSC genome browser|ABCA13}}
- {{UCSC gene details|ABCA13}}
{{ABC transporters}}{{DEFAULTSORT:Abca13}} 1 : ABC transporters |