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KIAA0226 / RUBICON 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.
Gene Name: | KIAA0226 |
Synonyms: | KIAA0226, Baron, RUBICON, Rundataxin |
Target Sequences: | D86979 BAA13215.3 Q92622 |
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