人 CDH23 (NM_022124) cDNA克隆

Accession: NM_022124
基因名称: CDH23
基因别名: USH1D; CDHR23
基因描述: Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.
种属: Human
CDS区长度: 10065 (查看编码区序列)
翻译后氨基酸长度: 3354 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
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G114095 人 CDH23 (NM_022124) cDNA克隆 pDONR223 2ug质粒 点击询价

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]