Symbol: Name: ID: |
BEST1 bestrophin 1 GFS:2477 |
Gene name: | BEST1 |
Chromosome: | 11q12 |
Previous Symbols: | VMD2 |
Previous Names: | vitelliform macular dystrophy 2 |
Aliases: | BMD, BEST |
Name Aliases: | Best disease |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1346332 | Rat Genome Database ID: | RGD:1311656 |
HGNC ID: | HGNC:12703 | RefSeq IDs: | NM_001139443 |
Entrez Gene ID: | 7439 | Ensembl Gene ID: | ENSG00000167995 |
VEGA IDs: | UniProt ID: | O76090 | |
UCSC ID: | uc001nss.2 | OMIM ID: | 607854 |
Pubmed: | PMID1302019 PMID 17003041 | ||
CCDS IDs: | CCDSCCDS31580.1 CCDS CCDS44623.1 |
Bestrophin-1 is a protein that in humans is encoded by the BEST1 gene.
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.
Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Products for BEST1 gene
Catalog | Product Name | Application | Company |
GFS:E02477 | bestrophin 1; ELISA kit | ELISA | n/a |
GFS:A02477 | bestrophin 1; Anti | ANTIBODIES | n/a |
GFS:P02477 | bestrophin 1; Protien | Protien | n/a |