Aliases for ABCB5 Gene
External Ids for ABCB5 Gene
Previous GeneCards Identifiers for ABCB5 Gene
ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ABCB5 Gene
ABCB5 (ATP Binding Cassette Subfamily B Member 5) is a Protein Coding gene. Diseases associated with ABCB5 include Dyschromatosis Universalis Hereditaria and X-Linked Sideroblastic Anemia With Ataxia. Among its related pathways are ABC-family proteins mediated transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ATPase activity and efflux transmembrane transporter activity. An important paralog of this gene is ABCB4.
UniProtKB/Swiss-Prot for ABCB5 Gene
Drug efflux transporter present in a number of stem cells that acts as a regulator of cellular differentiation. Able to mediate efflux from cells of the rhodamine dye and of the therapeutic drug doxorubicin. Specifically present in limbal stem cells, where it plays a key role in corneal development and repair.
ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.