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ATP-binding cassette, sub-family A (ABC1), member 13
Identifiers
Symbols ABCA13; FLJ33876; FLJ33951; FLJ16398; DKFZp313D2411
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 - 48.66 Mb
Chr 11:
9.09 - 9.58 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

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. ^ 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. 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". Am. J. Human Genetics. doi:10.1016/j.ajhg.2009.11.003. http://www.cell.com/AJHG/abstract/S0002-9297(09)00517-5. Lay summary – BBC News.  

Further reading

  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491-6. PMID 10737800.  
  • de Krom M, Staal WG, Ophoff RA, et al. (2009). "A common variant in DRD3 receptor is associated with autism spectrum disorder.". Biol. Psychiatry 65 (7): 625-30. doi:10.1016/j.biopsych.2008.09.035. PMID 19058789.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.  
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