Gene: NDRG1

Alternate names for this Gene: CAP43|CMT4D|DRG-1|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.22

Description of this Gene: N-myc downstream regulated 1

Type of Gene: protein-coding

rs1060503092 in NDRG1 gene and Charcot-Marie-Tooth disease type 4 PMID 23996628 2013 Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

PMID 12872253 2003 Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.

rs16904882 in NDRG1 gene and Invasive non-typhoidal salmonellosis PMID 29523850 2018 Risk of nontyphoidal Salmonella bacteraemia in African children is modified by STAT4.