ADP-Ribosylhydrolase-Like 2

Alternative Names

  • ADPRHL2
  • Adp-Ribosylhydrolase 3
  • ARH3
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OMIM Number

610624

NCBI Gene ID

54936

Uniprot ID

Q9NX46

Length

5,048 bases

No. of Exons

6

Protein Name

ADP-ribose glycohydrolase ARH3

Molecular Mass

38947 Da

Amino Acid Count

363

Genomic Location

chr1:36,088,884-36,093,931

Gene Map Locus
1p34.3

Description

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_017825.3:c.1000C>TUnited Arab EmiratesNC_000001.11:g.36093294C>TPathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresNM_017825.3:c.1000C>T; NP_060295.1:p.Gln334Ter1557734377590298
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