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人BEST1(NM_001139443)ORF克隆
人BEST1(NM_001139443)ORF克隆
会员等级价V
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  • 商品货号:F111737
  • accession:NM_001139443
  • 基因别名:BEST1
  • 基因描述:Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.
  • 载体: 现货载体
  • CDS区长度:1815
  • 翻译后氨基酸长度:604
  • TranscriptVariant:This variant (2) lacks an exon in the 5' coding region and uses an alternate splice site in the 3' coding, compared to variant 1. These differences result in an isoform (2) that, compared to isoform 1, begins from a downstream in-frame methionine residue and has a distinct C-terminus.
  • 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]
  • 载体信息:自有图片地址
  • 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