ATP-binding cassette, sub-family C (CFTR/MRP), member 13, also known as ABCC13, is a human gene.1
This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described.1
Dean M, Annilo T (2005). "Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates.". Annual review of genomics and human genetics6: 123–42. doi:10.1146/annurev.genom.6.080604.162122. PMID 16124856.
Annilo T, Dean M (2005). "Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages.". Genomics84 (1): 34–46. doi:10.1016/j.ygeno.2004.02.010. PMID 15203202.
Hillman RT, Green RE, Brenner SE (2005). "An unappreciated role for RNA surveillance.". Genome Biol.5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMID 14759258.
Brun ME, Ruault M, Ventura M, et al. (2003). "Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms.". Gene312: 41–50. PMID 12909339.
Yabuuchi H, Takayanagi S, Yoshinaga K, et al. (2003). "ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver.". Biochem. Biophys. Res. Commun.299 (3): 410–7. PMID 12445816.
Gardiner K, Slavov D, Bechtel L, Davisson M (2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis.". Genomics79 (6): 833–43. doi:10.1006/geno.2002.6782. PMID 12036298.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
Allikmets R, Gerrard B, Hutchinson A, Dean M (1997). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.". Hum. Mol. Genet.5 (10): 1649–55. PMID 8894702.