ADPRS ADP-ribosylserine hydrolase

Gene ID: 54936, updated on 19-Sep-2024
Gene type: protein coding
Also known as: ARH3; ADPRHL2; CONDSIAS

Summary

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.[provided by RefSeq, Feb 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MedGen: C4748527OMIM: 618170GeneReviews: Not available	See labs

Genomic context

Location:: 1p34.3

Sequence:: Chromosome: 1; NC_000001.11 (36088892..36093932)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ADPRS variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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