ABCB6
Sign in to saveAlso known as ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat
ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.
Gene data
ABCB6- Name
- ATP binding cassette subfamily B member 6 (LAN blood group)
- Type
- protein-coding
- Aliases
- ABC, LAN, MTABC3, PRP, umat
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017].
via MyGene.info
Gene · Ensembl
ATP binding cassette subfamily B member 6 (LAN blood group)
- Symbol
- ABCB6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:219,209,765-219,219,012
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ABCB6 PDB 3NH6.png
Show 5 more facts
- HomoloGene ID
- 11375
- exact match
- identifiers.org/ncbigene/10058
- genomic end
- 219218994
- genomic start
- 219209772
- cytogenetic location
- 2q35
via Wikidata · CC0
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Article
4 sectionsContents
- See also
- References
- Further reading
- External links
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.