Gene Symbol | KALRN |
Entrez Gene ID | 8997 |
Full Name | kalirin RhoGEF kinase |
Synonyms | ARHGEF24,CHD5,CHDS5,DUET,DUO,HAPIP,TRAD |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Coronary heart disease, susceptibility to, 5}, 608901 (3) |