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- accession：NM_001145853
- 基因别名：WFS1
- 基因描述：Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2673
- 翻译后氨基酸长度：890
- TranscriptVariant：This variant (2) has an alternate splice site in the 5' UTR, resulting in a slightly shorter transcript, as compared to variant 1.
- 基因简介：This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
- 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
