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SCAR15

Chr 3AR

rubicon autophagy regulator

Also known as: KIAA0226, RUBICON, SCAR15

NCBI Gene: 9711 OMIM: 615705

The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking that controls endosome maturation through its RUN domain (involved in Ras-like GTPase signaling) and DUF4206 domain (containing a diacylglycerol binding-like motif). Mutations cause autosomal recessive spinocerebellar ataxia 15, which primarily affects the cerebellum and results in progressive coordination difficulties. This follows autosomal recessive inheritance, requiring mutations in both gene copies for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…