NDRG1 Chromosome 8
N-myc downstream regulated 1
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What This Gene Does
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]
Gene Info
Gene Group
NDRG family
Locus Type
gene with protein product
Location
8q24.22
Ensembl
ENSG00000104419
Associated Conditions (8)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
NDRG1-related disorder
Lung cancer
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Key Variants
RS1048918488
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS11575976
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
Health Risk
RS1310471207
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
Health Risk
RS137993172
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
RS140634799
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS141078746
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS143549909
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, NDRG1-related disorder
Health Risk
RS145871479
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
Health Risk
RS1467447359
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
Health Risk
RS150796527
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
RS191237702
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS199597649
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2130727581 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS2538042150 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS2538050102 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538050109 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538050254 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538059618 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2538131347 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1060503092 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4 |
| RS1588216753 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS199928197 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D |
| RS879254290 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease |