bestrophin-1 (vitelliform macular dystrophy [VMD2] protein, BEST1, VMD2)
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Function
- forms Ca+2-sensitive Cl0 channels
- may conduct other physiologically significant anions, i.e. HCO3-
- interacts with PPP2CB & PPP2R1B (putative)
- phosphorylated by PP2A
Structure
Compartment
Alternative splicing
named isoforms=4
Expression
- predominantly expressed in the basolateral membrane of retinal pigment epithelium
Pathology
- defects in BEST1 are the cause of
- defects in BEST1 may be a cause of bull's eye maculopathy
More general terms
References
- ↑ Petrukhin K et al Identification of the gene responsible for Best macular dystrophy. Nature Genetics 19:241-7, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9662395
- ↑ UniProt http://www.uniprot.org/uniprot/O76090.html
- ↑ VMD2 mutation database http://www.uni-wuerzburg.de/humangenetics/vmd2.html
- ↑ Mutations of the VMD2 gene Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/vmd2mut.htm
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=VMD2
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7439
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7439
- OMIM: https://mirror.omim.org/entry/153700
- OMIM: https://mirror.omim.org/entry/153870
- OMIM: https://mirror.omim.org/entry/193220
- OMIM: https://mirror.omim.org/entry/607854
- OMIM: https://mirror.omim.org/entry/608161
- OMIM: https://mirror.omim.org/entry/611809
- UniProt: http://www.uniprot.org/uniprot/O76090.html