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- accession：NM_001165979
- 基因别名：PLCE; PPLC; NPHS3
- 基因描述：Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：5985
- 翻译后氨基酸长度：1994
- TranscriptVariant：This variant (2) lacks two exons and has an additional novel exon at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a novel start codon, compared to variant 1. The encoded protein (isoform 2; also known as PLCepsilon1b) has a shorter and distinct N-terminus, compared to isoform 1.
- 基因简介：This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 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
