ABCA13
| ABCA13 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 7: 48.17 – 48.65 Mb | Chr 11: 9.14 – 9.63 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
ATP-binding cassette sub-family A member 13 also known as ABCA13 is a
ATP-binding cassette family of proteins. The protein contains 5058 residues, and is currently the largest known protein of the ABC family.[6]
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.[7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000179869 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004668 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 34262689.
- PMID 19403462.
- PMID 19944402.
- Lay summary in: "'Mental illness gene' discovered by Scots scientists". BBC News. 2009-11-26.
Further reading
- 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 (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. PMID 10737800.
- 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 (April 2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder". Biological Psychiatry. 65 (7): 625–30. S2CID 11545813.
External links
- ABCA13 human gene location in the UCSC Genome Browser.
- ABCA13 human gene details in the UCSC Genome Browser.