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Gene : BEST1 Homo sapiens

Name  ? bestrophin 1 Cytological Location  11q12.3
Brief Description  bestrophin 1
Description  This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
  • synonyms:
  • OTTHUMG00000167469,
  • BEST1,
  • uc001nss.4,
  • vitelliform macular dystrophy 2,
  • RP50,
  • BEST,
  • TU15B,
  • BMD,
  • VMD2,
  • NM_004183,
  • ARB,
  • Best disease,
  • BMD,
  • BEST,
  • Best1V1Delta2,
  • AF057170,
  • RP50,
  • HGNC:12703,
  • VMD2
  • identifiers:
  • 7439,
  • ENSG00000167995,
  • BEST1

Genome feature

Region: gene ? Length: 18794  
Location: 11:61946722-61965515 Cyto location: 11q12.3


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Disease

4 Diseases

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245 SN Ps

5 Cross References

19 Data Sets

36 Homologues

0 Located Features

97 Rna Seq Results