ABCB6

ABCB6
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3NH6, 3NH9, 3NHA, 3NHB
Identifiers
Aliases	ABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group)
External IDs	OMIM: 605452; MGI: 1921354; HomoloGene: 11375; GeneCards: ABCB6; OMA:ABCB6 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	219,218,994 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,157,036 bp
RNA expression pattern
	Top expressed in
	right ovary; ; right hemisphere of cerebellum; ; left ovary; ; right lobe of thyroid gland; ; nucleus accumbens; ; Hypothalamus; ; left testis; ; right frontal lobe; ; left lobe of thyroid gland; ; caudate nucleus;
	Top expressed in
	bone marrow; ; spermatocyte; ; proximal tubule; ; liver; ; spermatid; ; white adipose tissue; ; right kidney; ; human kidney; ; muscle of thigh; ; morula;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATPase-coupled transmembrane transporter activity; nucleotide binding; heme transmembrane transporter activity; ABC-type heme transporter activity; ATPase activity; heme binding; efflux transmembrane transporter activity; ATP binding;
Cellular component	integral component of membrane; endosome; Golgi apparatus; endoplasmic reticulum membrane; membrane; ATP-binding cassette (ABC) transporter complex; Golgi membrane; plasma membrane; integral component of mitochondrial outer membrane; mitochondrial outer membrane; endoplasmic reticulum; mitochondrion; mitochondrial envelope; endosome membrane; extracellular exosome; nucleoplasm; cytosol; vacuolar membrane;
Biological process	porphyrin-containing compound biosynthetic process; heme transport; brain development; transmembrane transport; skin development; cellular iron ion homeostasis; transport; heme transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	10058
	74104
	ENSG00000115657
	ENSMUSG00000026198
	Q9NP58
	Q9DC29
	NM_005689; NM_001349828
	NM_023732
	NP_005680; NP_001336757
	NP_076221
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.

The membrane-associated protein encoded by this gene 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 Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism. The protein also carries the Lan antigen, which defines the Lan blood group system.