NP_001132915.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
57,349 Da
NCBI Official Full Name
bestrophin-1 isoform 2
NCBI Official Synonym Full Names
bestrophin 1
NCBI Official Synonym Symbols
ARB; BMD; BEST; RP50; VMD2; TU15B [Similar Products]
NCBI Protein Information
bestrophin-1
UniProt Protein Name
Bestrophin-1
UniProt Synonym Protein Names
TU15B; Vitelliform macular dystrophy protein 2
UniProt Synonym Gene Names
NCBI Summary for BEST1
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]
UniProt Comments for BEST1
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
Research Articles on BEST1
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Products associated with anti-BEST1 antibody
Pathways associated with anti-BEST1 antibody
Diseases associated with anti-BEST1 antibody
Organs/Tissues associated with anti-BEST1 antibody
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