N-Myc Downstream-Regulated Gene 1

Alternative Names

  • NDRG1
  • Protein Regulated by Oxygen 1
  • PROXY1
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OMIM Number

605262

NCBI Gene ID

10397

Uniprot ID

Q92597

Length

60,078 bases

No. of Exons

17

No. of isoforms

3

Protein Name

Protein NDRG1

Molecular Mass

42835 Da

Amino Acid Count

394

Genomic Location

chr8:133,237,175-133,297,252

Gene Map Locus
8q24.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006096.4:c.761delSaudi ArabiaNC_000008.11:g.133247923delLikely PathogenicLikely PathogenicCharcot-Marie-Tooth Disease, Demyelinating, Type 4DNG_007943.1:g.54335del ; NM_006096.4:c.761del; NP_006087.2:p.Pro254LeufsTer673362561
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