Peptidyl-tRNA Hydrolase Domain-Containing 1

Alternative Names

PTRHD1
Chromosome 2 Open Reading Frame 79
C2ORF79

Length

3,664 bases

No. of Exons

No. of isoforms

Protein Name

Putative peptidyl-tRNA hydrolase PTRHD1

Molecular Mass

15805 Da

Amino Acid Count

140

Genomic Location

chr2:24,789,728-24,793,391

Gene Map Locus

2p23.3

Description

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001013663.2:c.365G>A	Egypt; Saudi Arabia	NC_000002.12:g.24790469C>T		Likely Pathogenic, Pathogenic	Intellectual Deficiency, Autosomal Recessive, Unclassified; Neurodevelopmental Disorder with Early-Onset Parkinsonism and Behavioral Abnormalities	NG_054752.1:g.7914G>A; NM_001013663.2:c.365G>A; NP_001013685.1:p.Arg122Gln	1238843879

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ptrhd1

Contributors

Sayeeda Hana: 09.11.2022

Edit History

Pratibha Nair: 08.02.2023
Pratibha Nair: 15.11.2022
Sayeeda Hana: 09.11.2022

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