亨廷顿病(hd)是一种以纹状体神经元丧失为特征的神经退行性疾病,是由hd蛋白亨廷顿蛋白中的多聚谷氨酸束扩张引起的。该基因编码一种与huntingtin相关蛋白1相互作用的蛋白质,huntingtin相关蛋白1是一种huntingtin结合蛋白,可能在囊泡运输中发挥作用。[由RefSeq提供,2016年4月]
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. [provided by RefSeq, Apr 2016]

基因名:KALRN
别名:DUO,CHD5,DUET,TRAD,CHDS5,HAPIP,ARHGEF24
基因ID:8997
Chromosome:
(GRCh37)
3 Start: 123813558 End: 124440036 Strand: 
信号通路:  
KALRN 基因突变与药物

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