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- accession：NM_004183
- 基因别名：BEST1
- 基因描述：Homo sapiens bestrophin 1 (BEST1), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1758
- 翻译后氨基酸长度：585
- TranscriptVariant：This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
- 基因简介：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]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
