Aliases for ABCB6 Gene
- ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group) 2 3
- MTABC3 3 4 6
- 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
- MCOPCB7 3 6
- Umat 3 4
External Ids for 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 lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
GeneCards Summary for ABCB6 Gene
ABCB6 (ATP-Binding Cassette, Sub-Family B (MDR/TAP), Member 6 (Langereis Blood Group)) is a Protein Coding gene. Diseases associated with ABCB6 include microphthalmia, isolated, with coloboma 7 and dyschromatosis universalis hereditaria 3. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and ABC-family proteins mediated transport. GO annotations related to this gene include heme binding and efflux transmembrane transporter activity. An important paralog of this gene is ABCB7.
UniProtKB/Swiss-Prot for ABCB6 Gene
Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesis.