Gene Symbol | RUBCN |
Entrez Gene ID | 9711 |
Full Name | RUN and cysteine rich domain containing beclin 1 interacting protein |
Synonyms | KIAA0226,RUBICON,SCAR15 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3) |