人 OCLN (NM_001205255) cDNA克隆

Accession: NM_001205255
基因名称: OCLN
基因别名: BLCPMG
基因描述: Homo sapiens occludin (OCLN), transcript variant 3, mRNA.
种属: Human
CDS区长度: 816 (查看编码区序列)
翻译后氨基酸长度: 271 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, compared to isoform a. The 5' UTR of this variant is incomplete due to a lack of 5'-complete transcripts containing this exon combination and the presence of splicing ambiguity at the 5' end.
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G126318 人 OCLN (NM_001205255) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]