基因名:
RUBCN
产品别名:
KIAA0226; RUBICON; SCAR15; RUBCN; rubicon autophagy regulator; rubicon autophagy regulator; run domain Beclin-1-interacting and cysteine-rich domain-containing protein; RUN and cysteine rich domain containing beclin 1 interacting protein; RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein; baron; beclin-1 associated RUN domain containing protein; rundataxin; Rubicon蛋白;
背景信息:
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]