ABCB6

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ATP-binding cassette, sub-family B (MDR/TAP), member 6
Protein ABCB6 PDB 3NH6.png
Rendering based on PDB 3NH6.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ABCB6 ; ABC; ABC14; DUH3; LAN; MCOPCB7; MTABC3; PRP; umat
External IDs OMIM605452 MGI1921354 HomoloGene11375 GeneCards: ABCB6 Gene
RNA expression pattern
PBB GE ABCB6 203192 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10058 74104
Ensembl ENSG00000115657 ENSMUSG00000026198
UniProt Q9NP58 Q9DC29
RefSeq (mRNA) NM_005689 NM_023732
RefSeq (protein) NP_005680 NP_076221
Location (UCSC) Chr 2:
220.07 – 220.08 Mb
Chr 1:
75.17 – 75.18 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[1][2][3]

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 Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism.[3]

See also[edit]

References[edit]

  1. ^ Allikmets R, Gerrard B, Hutchinson A, Dean M (Feb 1997). "Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database". Hum Mol Genet 5 (10): 1649–55. doi:10.1093/hmg/5.10.1649. PMID 8894702. 
  2. ^ Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (Jun 1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. 
  3. ^ a b Zhang C, Li D, Zhang J, Chen X (Mar 2013). "Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria". J Invest Dermatol 133 (9): 2221–8. doi:10.1038/jid.2013.145. PMID 23519333. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.