Entrez gene ID | | 266675 |
Official gene symbol | | BEST4 |
Full name | | bestrophin 4 |
Aliases | | ,MGC126872,VMD2L2, |
Gene summary | | This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p33-p32.3 |
Gene position | | 45253426 - 45249257 Map Viewer |
Gene orientation | | minus |
Gene size | | 4170 bp |
Gene sequence |
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OMIM ID | | 607336 |
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