ABCA13

ABCA13, ATP-binding cassette sub-family A member 13 ("13 transporter ABC podrodziny A") – białko kodowane u człowieka genem ABCA13 leżącym na chromosomie 7[1]. Należy do rodziny transporterów ABC. Obejmuje ono 5058 reszt aminoacylowych, co czyni je największym znanym białkiem rodziny transporterów ABC[2].

Znaczenie kliniczne

Jedno z badań zasugerowało, że rzadka zmienność i mutacje tego genu mogą wiązać się z takimi chorobami psychicznymi, jak schizofrenia, choroba afektywna dwubiegunowa i zaburzenia depresyjne[3].

Przypisy

  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. 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), s. 160–8, 2002. DOI: 10.1159/000069852. PMID: 12697998. (ang.). 
  2. ↑ Vasiliou V, Vasiliou K, Nebert DW. Human ATP-binding cassette (ABC) transporter family. „Hum. Genomics”. 3 (3), s. 281–90, April 2009. PMID: 19403462. (ang.). 
  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. 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), s. 833, 2009. DOI: 10.1016/j.ajhg.2009.11.003. (ang.). 

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