ATP Binding Cassette Transporter B6 (ABCB6)

ABC-B6; PRP; ABC; ABC14; MTABC3; Umat; ATP-Binding Cassette Half-Transporter; P-glycoprotein-related protein; Ubiquitously-expressed mammalian ABC half transporter

SPN	T148
HGNC	47
MGI	1921354
PubMed	11977179
RGD	71077
UniProt	Q9NP58
Wiki	ABCB6

ATP-binding cassette sub-family B member 6, 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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.

Reference

"MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis."
J. Biol. Chem. 275:17536-17540(2000) [PubMed] [Europe PMC] [Abstract]

"Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6."
Biochim. Biophys. Acta 1574:117-130(2002) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [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 mammalian mitochondrial porphyrin transporter."
Nature 443:586-589(2006) [PubMed] [Europe PMC] [Abstract]

"Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane."
Biochemistry 46:9443-9452(2007) [PubMed] [Europe PMC] [Abstract]

"Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus."
Biochem. Biophys. Res. Commun. 369:369-375(2008) [PubMed] [Europe PMC] [Abstract]

"ABCB6 mutations cause ocular coloboma."
Am. J. Hum. Genet. 90:40-48(2012) [PubMed] [Europe PMC] [Abstract]

"ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis."
Nat. Genet. 44:170-173(2012) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia."
Am. J. Hematol. 88:66-72(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6."
J. Biomol. NMR 35:53-71(2006) [PubMed] [Europe PMC] [Abstract]

"Structures of the nucleotide-binding domain of the human ABCB6 transporter and its complexes with nucleotides."
Acta Crystallogr. D 66:979-987(2010) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Mutations in ABCB6 cause dyschromatosis universalis hereditaria."
J. Invest. Dermatol. 133:2221-2228(2013) [PubMed] [Europe PMC] [Abstract]

"Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
PLoS ONE 8:E79808-E79808(2013) [PubMed] [Europe PMC] [Abstract]

"Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
PLoS ONE 9:E87250-E87250(2014) [PubMed] [Europe PMC] [Abstract]