ABCA13

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ATP-binding cassette, sub-family A (ABC1), member 13
Identifiers
Symbols ABCA13 ; DKFZp313D2411; FLJ16398; FLJ33876; FLJ33951
External IDs OMIM607807 MGI2388707 HomoloGene27991 GeneCards: ABCA13 Gene
Orthologs
Species Human Mouse
Entrez 154664 268379
Ensembl ENSG00000179869 ENSMUSG00000004668
UniProt Q86UQ4 Q5SSE9
RefSeq (mRNA) NM_152701 NM_178259
RefSeq (protein) NP_689914 NP_839990
Location (UCSC) Chr 7:
48.21 – 48.69 Mb
Chr 11:
9.19 – 9.68 Mb
PubMed search [1] [2]

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.[1] 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[edit]

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[edit]

  1. ^ Prades C, Arnould I, Annilo T, Shulenin S, Chen ZQ, Orosco L, Triunfol M, Devaud C, Maintoux-Larois C, Lafargue C, Lemoine C, Denèfle P, Rosier M, Dean M (2002). "The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon". Cytogenet. Genome Res. 98 (2–3): 160–8. doi:10.1159/000069852. PMID 12697998. 
  2. ^ Vasiliou V, Vasiliou K, Nebert DW (April 2009). "Human ATP-binding cassette (ABC) transporter family". Hum. Genomics 3 (3): 281–90. doi:10.1186/1479-7364-3-3-281. PMC 2752038. PMID 19403462. 
  3. ^ 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 DHR (2009). "A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression". American Journal of Human Genetics 85 (6): 833. doi:10.1016/j.ajhg.2009.11.003. Lay summaryBBC News. 

Further reading[edit]

External links[edit]