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ABCB6 Gene
Definition and Synonyms

Definition: The ABCB6 gene at 2q26 encodes a membrane-associated protein that is a member 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 and this protein is a member of the MDR/TAP subfamily. Members of this subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter, containing only 1 transmembrane domain and 1 nucleotide-binding domain, likely plays a role in mitochondrial function. ABCB6 may help maintain respiratory function and may also transport Fe/S clusters from mitochondria to the cytosol, thereby helping to prevent iron accumulation and DNA damage in the organelle. This gene is a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. (NCI)

Synonyms: ABCB6 Gene, ABC14, ABCB6, EST45597, MTABC3, UMAT

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