NDRG1

Chr 8AR

N-myc downstream regulated 1

Also known as: CAP43, CMT4D, DRG-1, DRG1, GC4, HMSNL, NDR1, NMSL

NCBI Gene: 10397 ENSG00000104419 UniProt: Q92597 OMIM: 605262

The protein encoded by NDRG1 is a cytoplasmic stress-responsive protein that regulates cell growth and differentiation, maintains peripheral nerve myelin sheaths in Schwann cells, and is necessary for p53-mediated caspase activation and apoptosis. Autosomal recessive mutations cause Charcot-Marie-Tooth disease type 4D through a predicted gain-of-function mechanism. The protein functions in cell trafficking, vesicular recycling, and microtubule dynamics, with disruption of these processes leading to peripheral neuropathy.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 4DMIM #601455

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

119

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.58

LOEUF

Multiple*

Mechanism· predicted

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