Contents

ABCC6

Protein-coding gene in the species Homo sapiens

ABCC6
Identifiers
Aliases	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; OMA:ABCC6 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.11 Start 16,149,565 bp[1] End 16,223,522 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 29.64 cM|7 B3 Start 45,616,979 bp[2] End 45,679,726 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver duodenum body of pancreas human kidney mucosa of transverse colon renal cortex upper lobe of left lung body of stomach right lung right adrenal cortex Top expressed in liver left lobe of liver yolk sac lamina propria of urinary bladder proximal tubule right kidney vein detrusor urinae muscle embryo jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity ATP binding ATPase-coupled inorganic anion transmembrane transporter activity transporter activity transmembrane transporter activity Cellular component endoplasmic reticulum membrane integral component of membrane basolateral plasma membrane endoplasmic reticulum membrane nucleus plasma membrane apical plasma membrane lateral plasma membrane vacuolar membrane Biological process response to stimulus visual perception transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 368 27421 Ensembl ENSG00000275331 ENSG00000091262 ENSMUSG00000030834 UniProt O95255 Q9R1S7 RefSeq (mRNA) NM_001079528 NM_001171 NM_001351800 NM_018795 RefSeq (protein) NP_001072996 NP_001162 NP_001338729 NP_061265 Location (UCSC) Chr 16: 16.15 – 16.22 Mb Chr 7: 45.62 – 45.68 Mb PubMed search [3] [4]
Wikidata
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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.^[5][6][7] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.^[5]

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.^[8]

Pathology[edit]

Mutations in this protein cause pseudoxanthoma elasticum (PXE).^[9] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.^[10][11]

Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.^[12]

Deficiency of Abcc6 in mouse models of ischemia leads to larger infarcts, which can be rescued by Abcc6 overexpression.^[13]

Location[edit]

Abcc6 gene encodes an intracellular transporter associated with mitochondrial function, located in the mitochondrial-associated membrane (MAM), whereas its substrate can be located in either MAM, cytosol or ER.^[14] Abcc6 is primarily expressed in liver and kidney,.^[15][16]

References[edit]

External links[edit]

• GeneReviews/NIH/NCBI/UW entry on Pseudoxanthoma Elasticum
• ABCC6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Membrane Topology Model of Human ABCC6 protein
• Human ABCC6 genome location and ABCC6 gene details page in the UCSC Genome Browser.

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