人 CDH23 (NM_001171934) cDNA克隆

基本信息

Accession: NM_001171934
基因名称: CDH23
基因别名: USH1D; CDHR23
基因描述: Homo sapiens cadherin-related 23 (CDH23), transcript variant 7, mRNA.
种属: Human
CDS区长度: 3240 (查看编码区序列)
翻译后氨基酸长度: 1079 (查看氨基酸序列)
Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (7, also referred to as isoform B2) is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G114094 人 CDH23 (NM_001171934) 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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