• Source: ABCB7

ATP-binding cassette sub-family B member 7, mitochondrial is a protein that in humans is encoded by the ABCB7 gene.




Function


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 gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis.




Clinical significance


Mutations in this gene have been implicated in X-linked sideroblastic anemia with ataxia.




Interactions


ABCB7 has been shown to interact with Ferrochelatase.




See also


ATP-binding cassette transporter




References






Further reading






External links


GeneReviews/NIH/NCBI/UW entry on X-Linked Sideroblastic Anemia and Ataxia
ABCB7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
ABCB7 human gene location in the UCSC Genome Browser.
ABCB7 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• ABCB7
• Sideroblastic anemia
• List of genetic disorders
• List of human protein-coding genes 1
• Housekeeping gene
• X-linked sideroblastic anemia and spinocerebellar ataxia
• Ferrochelatase
• Transmembrane domain of ABC transporters
• ATP-binding domain of ABC transporters
• List of OMIM disorder codes