UniProt Protein Function: | ABCB6: Binds heme and porphyrins and functions in their ATP- dependent uptake into the mitochondria. Plays a crucial role in heme synthesis. Defects in ABCB6 are the cause of microphthalmia, isolated, with coloboma, type 7 (MCOPCB7). A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Transporter, ABC family; Hydrolase; Mitochondrial; Membrane protein, integral; Transporter; Membrane protein, multi-passChromosomal Location of Human Ortholog: 2q36Cellular Component: mitochondrial envelope; Golgi apparatus; mitochondrial outer membrane; mitochondrion; endoplasmic reticulum; plasma membrane; ATP-binding cassette (ABC) transporter complex; endosome; integral to mitochondrial outer membraneMolecular Function: efflux transmembrane transporter activity; heme-transporting ATPase activity; heme transporter activity; heme binding; ATP bindingBiological Process: skin development; heme transport; cellular iron ion homeostasis; transport; brain development; porphyrin biosynthetic process; transmembrane transportDisease: Dyschromatosis Universalis Hereditaria 3; Blood Group, Langereis System; Microphthalmia, Isolated, With Coloboma 7 |
UniProt Protein Details: | |
NCBI Summary: | 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 lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q9NP58 |
NCBI GenInfo Identifier: | 13123949 |
NCBI Gene ID: | 10058 |
NCBI Accession: | Q9NP58.1 |
UniProt Secondary Accession: | Q9NP58,O75542, Q49A66, Q59GQ5, Q6ZME6, Q96ME8, Q9HAQ6 Q9HAQ7 |
UniProt Related Accession: | Q9NP58 |
Molecular Weight: | 88,600 Da |
NCBI Full Name: | ATP-binding cassette sub-family B member 6, mitochondrial |
NCBI Synonym Full Names: | ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) |
NCBI Official Symbol: | ABCB6 |
NCBI Official Synonym Symbols: | ABC; LAN; PRP; DUH3; umat; ABC14; MTABC3; MCOPCB7 |
NCBI Protein Information: | ATP-binding cassette sub-family B member 6, mitochondrial; mt-ABC transporter 3; P-glycoprotein-related protein; mitochondrial ABC transporter 3; ATP-binding cassette half-transporter; ubiquitously-expressed mammalian ABC half transporter |
UniProt Protein Name: | ATP-binding cassette sub-family B member 6, mitochondrial |
UniProt Synonym Protein Names: | Mitochondrial ABC transporter 3; Mt-ABC transporter 3; P-glycoprotein-related protein; Ubiquitously-expressed mammalian ABC half transporter |
Protein Family: | ABC transporter B family |
UniProt Gene Name: | ABCB6 |
UniProt Entry Name: | ABCB6_HUMAN |