ABCB6

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ABCB6
Protein ABCB6 PDB 3NH6.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ABCB6, ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat, PSHK2, ATP binding cassette subfamily B member 6 (Langereis blood group)
External IDs MGI: 1921354 HomoloGene: 11375 GeneCards: ABCB6
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ABCB6
Genomic location for ABCB6
Band 2q35 Start 219,209,768 bp[1]
End 219,218,990 bp[1]
RNA expression pattern
PBB GE ABCB6 203192 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005689
NM_001349828

NM_023732

RefSeq (protein)

NP_005680
NP_001336757

NP_076221

Location (UCSC) Chr 2: 219.21 – 219.22 Mb Chr 2: 75.17 – 75.18 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family B member 6, mitochondrial is a protein that in humans is encoded by the ABCB6 gene.[5][6][7]

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.[7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115657 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026198 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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 139146Freely accessible. PMID 9110174. 
  7. ^ 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.