ADP-Ribosylhydrolase-Like 2

Alternative Names

ADPRHL2
Adp-Ribosylhydrolase 3
ARH3

Length

5,048 bases

No. of Exons

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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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_017825.3:c.1000C>T	United Arab Emirates	NC_000001.11:g.36093294C>T	Pathogenic	Pathogenic	Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures	NM_017825.3:c.1000C>T; NP_060295.1:p.Gln334Ter	1557734377	590298

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=adprhl2

Contributors

Asha Deepthi: 03.05.2021

Edit History

Pratibha Nair: 11.10.2021
Asha Deepthi: 03.05.2021

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