ABCC6

Identifiers

ABCC6, ABC34, ARA, EST349056, GACI2, MLP1, MOAT-E, MOATE, MRP6, PXE, PXE1, URG7, ATP binding cassette subfamily C member 6

External IDs

OMIM: 603234 MGI: 1351634 HomoloGene: 55559 GeneCards: ABCC6

Gene ontology
Molecular function	• ATPase activity, coupled to transmembrane movement of substances • nucleotide binding • ATPase activity • ATP binding • transporter activity • ATPase-coupled anion transmembrane transporter activity
Cellular component	• endoplasmic reticulum • membrane • integral component of membrane • plasma membrane • basolateral plasma membrane • apical plasma membrane • endoplasmic reticulum membrane • lateral plasma membrane • nucleus
Biological process	• response to stimulus • response to drug • visual perception • transport • transmembrane transport • anion transmembrane transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


368


27421

Ensembl


n/a


ENSMUSG00000030834

UniProt


O95255


Q9R1S7

RefSeq (mRNA)


NM_001079528 NM_001171


NM_018795

RefSeq (protein)


NP_001072996 NP_001162


NP_061265.2

Location (UCSC)

Chr 16: 16.15 – 16.22 Mb

Chr 7: 45.97 – 46.03 Mb

PubMed search

n/a

NM_001079528
NM_001171

NM_018795

NP_001072996
NP_001162

NP_061265.2

Multidrug resistance-associated protein 6 (MRP6) also known as ATP-binding cassette sub-family C member 6 (ABCC6) and multi-specific organic anion transporter E (MOAT-E) is a protein that in humans is encoded by the ABCC6 gene. The protein encoded by the ABCC6 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 MRP subfamily which is involved in multidrug resistance.

Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.

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Wikipedia