ATP Binding Cassette Transporter B7 (ABCB7)

ABC-B7; ABC7; ASAT; Atm1p; ATP-binding cassette sub-family B member 7, mitochondrial

SPN	T147
HGNC	48
MGI	109533
PubMed	23070040
UniProt	O75027
Wiki	ABCB7

ATP-binding cassette sub-family B member 7, mitochondrial is a member of the superfamily of 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, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.

Reference

"Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia."
J. Hum. Genet. 43:115-122(1998) [PubMed] [Europe PMC] [Abstract]

"Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)."
Hum. Mol. Genet. 8:743-749(1999) [PubMed] [Europe PMC] [Abstract]

"Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation."
Blood 96:3256-3264(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning."
Proc. Natl. Acad. Sci. U.S.A. 95:8175-8180(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p."
FEBS Lett. 441:266-270(1998) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L."
Br. J. Haematol. 115:910-917(2001) [PubMed] [Europe PMC] [Abstract]

"X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation."
Eur. J. Paediatr. Neurol. 16:730-735(2012) [PubMed] [Europe PMC] [Abstract]