人 PCDH15 (NM_001142764) cDNA克隆

Accession: NM_001142764
基因名称: PCDH15
基因别名: USH1F; CDHR15; DFNB23
基因描述: Homo sapiens protocadherin-related 15 (PCDH15), transcript variant B, mRNA.
种属: Human
CDS区长度: 5874 (查看编码区序列)
翻译后氨基酸长度: 1957 (查看氨基酸序列)
Transcript Variant: This variant (B) lacks an alternate in-frame exon in the 5' coding region, compared to variant A. The resulting isoform (CD1-2) lacks a 5-aa segment near the N-terminus, compared to isoform CD1-1.
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G158330 人 PCDH15 (NM_001142764) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]