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Gene : ABCB1 Homo sapiens

Name  ? ATP binding cassette subfamily B member 1 Cytological Location  7q21.12
Brief Description  ATP binding cassette subfamily B member 1
Description  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. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
  • synonyms:
  • uc003uiz.3,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 1,
  • ABCB1,
  • CD243,
  • P-GP,
  • GP170,
  • PGY1,
  • PGY1,
  • MDR1,
  • NM_000927,
  • colchicin sensitivity,
  • MDR1,
  • ABC20,
  • CD243,
  • HGNC:40,
  • GP170,
  • ABC20,
  • CLCS,
  • P-gp,
  • M14758,
  • OTTHUMG00000023393,
  • CLCS,
  • multidrug resistance protein 1
  • identifiers:
  • 5243,
  • ENSG00000085563,
  • ABCB1

Genome feature

Region: gene ? Length: 210307  
Location: 7:87503017-87713323 reverse strand Cyto location: 7q21.12


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SNPs

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Disease

2 Diseases

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Expression

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199 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results