BEST1, bestrophin 1

BEST1, bestrophin 1

• 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]

• Gene Synonyms (bestrophin-1, Best disease, vitelliform macular dystrophy protein 2, ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2,)
• NCBI Gene ID: 7439
• Species: Homo sapiens (Human)
• UNIPROT ID#>>B7Z375
  UNIPROT ID#>>O76090
  UNIPROT ID#>>B7Z1N8
  UNIPROT ID#>>A0A0S2Z579
  UNIPROT ID#>>A0A0S2Z4M4
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

bestrophin 1 interacts with:

• DnaJ heat shock protein family (Hsp40) member C5
  FXYD6-FXYD2 readthrough
  membrane spanning 4-domains A13
  NEDD4 like E3 ubiquitin protein ligase

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.