Gene Symbol | ABCB6 |
Entrez Gene ID | 10058 |
Full Name | ATP binding cassette subfamily B member 6 (Langereis blood group) |
Synonyms | ABC,LAN,MTABC3,PRP,umat |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, isolated, with coloboma 7, 614497 (3); [Blood group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3); Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3) |