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ABCA13

From Wikipedia, the free encyclopedia
ABCA13
Identifiers
AliasesABCA13, ATP-binding cassette, sub-family A (ABC1), member 13, ATP binding cassette subfamily A member 13
External IDsOMIM: 607807; MGI: 2388707; HomoloGene: 27991; GeneCards: ABCA13; OMA:ABCA13 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152701
NM_152555

NM_178259

RefSeq (protein)

NP_689914

NP_839990

Location (UCSC)Chr 7: 48.17 – 48.65 MbChr 11: 9.14 – 9.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] 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.[6]

Clinical significance

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000179869Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004668Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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". Cytogenetic and Genome Research. 98 (2–3): 160–8. doi:10.1159/000069852. PMID 12697998. S2CID 34262689.
  6. ^ Vasiliou V, Vasiliou K, Nebert DW (April 2009). "Human ATP-binding cassette (ABC) transporter family". Human Genomics. 3 (3): 281–90. doi:10.1186/1479-7364-3-3-281. PMC 2752038. PMID 19403462.
  7. ^ 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 (December 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): 833–46. doi:10.1016/j.ajhg.2009.11.003. PMC 2790560. PMID 19944402.

Further reading

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