人 CDH23 (NM_001171935) cDNA克隆

基本信息

Accession: NM_001171935
基因名称: CDH23
基因别名: USH1D; CDHR23
基因描述: Homo sapiens cadherin-related 23 (CDH23), transcript variant 8, mRNA.
种属: Human
CDS区长度: 756 (查看编码区序列)
翻译后氨基酸长度: 251 (查看氨基酸序列)
Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (8, also referred to as isoform C1) has a distinct N-terminus and is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G114090 人 CDH23 (NM_001171935) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 CDH23 (NM_022124) cDNA克隆 transcript variant 1
人 CDH23 (NM_052836) cDNA克隆 transcript variant 2
人 CDH23 (NM_001171930) cDNA克隆 transcript variant 3
人 CDH23 (NM_001171931) cDNA克隆 transcript variant 4
人 CDH23 (NM_001171932) cDNA克隆 transcript variant 5
人 CDH23 (NM_001171933) cDNA克隆 transcript variant 6
人 CDH23 (NM_001171934) cDNA克隆 transcript variant 7
人 CDH23 (NM_001171935) cDNA克隆 transcript variant 8
人 CDH23 (NM_001171936) cDNA克隆 transcript variant 9

基因简介

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

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