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- accession：NM_001185117
- 基因别名：CLDN19
- 基因描述：Homo sapiens claudin 19 (CLDN19), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：657
- 翻译后氨基酸长度：218
- TranscriptVariant：This variant (3) lacks an exon in the CDS, which results in frame-shift, and contains an additional segment in the 3' region compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform a.
- 基因简介：The product of this gene belongs to the claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
- 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
