Gene Symbol | NDRG1 |
Entrez Gene ID | 10397 |
Full Name | N-myc downstream regulated 1 |
Synonyms | CAP43,CMT4D,DRG-1,DRG1,GC4,HMSNL,NDR1,NMSL,PROXY1,RIT42,RTP,TARG1,TDD5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 4D, 601455 (3) |