人 KALRN (NM_003947) cDNA克隆

Accession: NM_003947
基因名称: KALRN
基因别名: DUO; CHD5; DUET; TRAD; CHDS5; HAPIP; ARHGEF24
基因描述: Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 2, mRNA.
种属: Human
CDS区长度: 4992 (查看编码区序列)
翻译后氨基酸长度: 1663 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 3' UTR and lacks many exons in the 3' coding region, compared to variant 1. The encoded protein (isoform 2), also known as Trad and Duet, is shorter and has a distinct C-terminus, compared to isoform 1.
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G167108 人 KALRN (NM_003947) cDNA克隆 pDONR223 2ug质粒 点击询价

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]