| Protein Name | bestrophin 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7439 |
| Gene Symbol | BEST1 |
| UniProt | O76090 (BEST1_HUMAN), A0A0S2Z4M4 (A0A0S2Z4M4_HUMAN), B7Z1N8 (B7Z1N8_HUMAN), B7Z375 (B7Z375_HUMAN), A0A0S2Z579 (A0A0S2Z579_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
65
Total Number of Articles : 87 |
Description |
bestrophin 1 |
| Gene Summary |
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] |
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