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Gene : ABCC6 Homo sapiens

Name  ? ATP binding cassette subfamily C member 6 Cytological Location  16p13.11
Brief Description  ATP binding cassette subfamily C member 6
Description  The 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ABCC6,
  • OTTHUMG00000129967,
  • MLP1,
  • URG7,
  • ARA,
  • pseudoxanthoma elasticum,
  • MOAT-E,
  • PXE1,
  • EST349056,
  • ATP-binding cassette, sub-family C (CFTR/MRP), member 6,
  • GACI2,
  • MOATE,
  • NM_001079528,
  • ABC34,
  • PXE,
  • URG7,
  • AF076622,
  • MRP6,
  • ARA,
  • MLP1,
  • EST349056,
  • uc002den.5,
  • HGNC:57,
  • PXE,
  • MRP6
  • identifiers:
  • 368,
  • ENSG00000091262,
  • ABCC6

Genome feature

Region: gene ? Length: 74053  
Location: 16:16149565-16223617 reverse strand Cyto location: 16p13.11


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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3756 SN Ps

5 Cross References

17 Data Sets

23 Homologues

0 Located Features

97 Rna Seq Results