Aliases for ABCB6 Gene
- ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group) 2 3 5
- ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group) 2 3
- ATP-Binding Cassette Sub-Family B Member 6, Mitochondrial 3 4
- Ubiquitously-Expressed Mammalian ABC Half Transporter 3 4
- ATP-Binding Cassette Half-Transporter 2 3
- Mitochondrial ABC Transporter 3 3 4
- P-Glycoprotein-Related Protein 3 4
- Mt-ABC Transporter 3 3 4
External Ids for ABCB6 Gene
Previous GeneCards Identifiers for ABCB6 Gene
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]
GeneCards Summary for ABCB6 Gene
ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)) is a Protein Coding gene. Diseases associated with ABCB6 include Dyschromatosis Universalis Hereditaria 3 and Microphthalmia, Isolated, With Coloboma 7. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ATPase activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB7.
UniProtKB/Swiss-Prot Summary for ABCB6 Gene
Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.