人 USH1C (NM_005709) cDNA克隆

基本信息

Accession: NM_005709
基因名称: USH1C
基因别名: PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
基因描述: Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1659 (查看编码区序列)
翻译后氨基酸长度: 552 (查看氨基酸序列)
Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. The resulting protein (isoform a) has a distinct C-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
G112083 人 USH1C (NM_005709) 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 USH1C (NM_005709) cDNA克隆 transcript variant 1
人 USH1C (NM_153676) cDNA克隆 transcript variant b3

基因简介

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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