Aliases for KALRN Gene
External Ids for KALRN Gene
Previous HGNC Symbols for KALRN Gene
Previous GeneCards Identifiers for KALRN Gene
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]
GeneCards Summary for KALRN Gene
KALRN (Kalirin, RhoGEF Kinase) is a Protein Coding gene. Diseases associated with KALRN include coronary heart disease 5 and beriberi. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is ARHGEF40.
UniProtKB/Swiss-Prot for KALRN Gene
Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.