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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| RUBCN-20-RE | 20 (40 μL) | 200 μL |  |
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| RUBCN-20-OR | 20 (40 μL) | 200 μL |  |
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| RUBCN-20-GO | 20 (40 μL) | 200 μL |  |
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| RUBCN-20-GR | 20 (40 μL) | 200 μL |  |
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| RUBCN-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : RUBCN
Gene Name : RUN and cysteine rich domain containing beclin 1 interacting protein
Chromosome : CHR 3: 197,749,850-197,670,212
Locus : 3q29
Alt. Genes : ARPC2
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