| Primary Identifier | IPR033041 | Type | Family |
| Short Name | Best1 |
| description | Bestrophin-1 (Best1) forms calcium-sensitive chloride channels that are involved in distinct basic cellular processes such as Ca2+ homeostasis, neurotransmitter release, and cell volume regulation [, , ]. It has been linked to various retinopathies. Mutations in the Best1 gene cause vitelliform macular dystrophy (VMD2), an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence []. |
