Putative ATP-binding cassette transporter sub-family C member 13 is a protein that is not present in humans. In humans, ABCC13 is a pseudogene.[3]
Function
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.[3]
Dean M, Annilo T (2005). "Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates". Annual Review of Genomics and Human Genetics. 6: 123–42. doi:10.1146/annurev.genom.6.080604.162122. PMID16124856.
Annilo T, Dean M (Jul 2004). "Degeneration of an ATP-binding cassette transporter gene, ABCC13, in different mammalian lineages". Genomics. 84 (1): 34–46. doi:10.1016/j.ygeno.2004.02.010. PMID15203202.
Brun ME, Ruault M, Ventura M, Roizès G, De Sario A (Jul 2003). "Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms". Gene. 312: 41–50. doi:10.1016/S0378-1119(03)00530-4. PMID12909339.
Yabuuchi H, Takayanagi S, Yoshinaga K, Taniguchi N, Aburatani H, Ishikawa T (Dec 2002). "ABCC13, an unusual truncated ABC transporter, is highly expressed in fetal human liver". Biochemical and Biophysical Research Communications. 299 (3): 410–7. doi:10.1016/S0006-291X(02)02658-X. PMID12445816.
Gardiner K, Slavov D, Bechtel L, Davisson M (Jun 2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis". Genomics. 79 (6): 833–43. doi:10.1006/geno.2002.6782. PMID12036298.
