Gene: BEST1

Alternate names for this Gene: ARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2

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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: bestrophin 1

Type of Gene: protein-coding

Gene: RAB3IL1

Alternate names for this Gene: GRAB

Gene Summary: This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.2-q12.3

Description of this Gene: RAB3A interacting protein like 1

Type of Gene: protein-coding