Aliases for KIAA0226 Gene
External Ids for KIAA0226 Gene
The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for KIAA0226 Gene
KIAA0226 (KIAA0226) is a Protein Coding gene. Diseases associated with KIAA0226 include autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency and spinocerebellar ataxia, autosomal recessive 15. Among its related pathways are Apoptosis and Autophagy. An important paralog of this gene is KIAA0226L.
UniProtKB/Swiss-Prot for KIAA0226 Gene
Negatively regulates endocytic trafficking. Impairs the autophagosome maturation process. May inhibit PIK3C3 activity (By similarity).