rs2524682794

This variant is located in the ADPRS gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

About ADPRS

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]

View all ADPRS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…