- accession:NM_001171935
- 基因别名:CDH23
- 基因描述:Homo sapiens cadherin-related 23 (CDH23), transcript variant 8, mRNA.
- 载体:现货载体
- CDS区长度:756
- 翻译后氨基酸长度:251
- TranscriptVariant: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.
- 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]
- 规格:10ul 质粒
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