Protein-coding gene in the species Homo sapiens
ABCB6 |
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![](https://upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Protein_ABCB6_PDB_3NH6.png/250px-Protein_ABCB6_PDB_3NH6.png) |
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Identifiers |
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Aliases | ABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group) |
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External IDs | OMIM: 605452 MGI: 1921354 HomoloGene: 11375 GeneCards: ABCB6 |
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Wikidata |
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ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[5][6][7]
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.[7] The protein also carries the Lan antigen, which defines the Lan blood group system.[8]
Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)