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- accession：NM_001077365
- 基因别名：POMT1
- 基因描述：Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2178
- 翻译后氨基酸长度：725
- TranscriptVariant：This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 4 both encode isoform b.
- 基因简介：The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 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
