人 USH1G (NM_001282489) cDNA克隆

基本信息

Accession: NM_001282489
基因名称: USH1G
基因别名: SANS; ANKS4A
基因描述: Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1077 (查看编码区序列)
翻译后氨基酸长度: 358 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G123639 人 USH1G (NM_001282489) 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 USH1G (NM_173477) cDNA克隆 transcript variant 1
人 USH1G (NM_001282489) cDNA克隆 transcript variant 2

基因简介

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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