ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) [ Homo sapiens (human) ]
Source: NCBI Gene (ID 10058)
Symbol: ABCB6
Full name: ATP binding cassette subfamily B member 6 (Langereis blood group)
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: ABC; LAN; MTABC3; PRP; umat
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 14.1), ovary (RPKM 9.7) and 25 other tissues
Orthologs: mouse
Gene size: 9187bp
Exon count: 19