RecName: Full=Putative peptidyl-tRNA hydrolase PTRHD1; AltName: Full=P - Protein

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A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. [Neuropediatrics. 2024]
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.
Gebert J, Brunet T, Wagner M, Rath J, Aull-Watschinger S, Pataraia E, Krenn M. Neuropediatrics. 2024 Jun; 55(3):209-212. Epub 2024 Jan 29.
Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population. [J Parkinsons Dis. 2022]
Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.
Li C, Ou R, Hou Y, Chen Y, Wei Q, Zhang L, Lin J, Liu K, Huang J, Chen X, et al. J Parkinsons Dis. 2022; 12(6):1917-1920.
The PTRHD1 Mutation in Intellectual Disability. [Arch Iran Med. 2021]
The PTRHD1 Mutation in Intellectual Disability.
Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R. Arch Iran Med. 2021 Oct 1; 24(10):747-751. Epub 2021 Oct 1.

RefSeq genomic sequence
See the genomic reference sequence for the PTRHD1 gene (NG_054752.1).
RefSeq protein
See the reference protein sequence for putative peptidyl-tRNA hydrolase PTRHD1 (NP_001013685.1).

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Q6GMV3 [Domain Mapping of Disease Mut...]
Q6GMV3
Domain Mapping of Disease Mutations
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Putative peptidyl-tRNA hydrolase PTRHD1; AltName: Full=Peptidyl-tR...
RecName: Full=Putative peptidyl-tRNA hydrolase PTRHD1; AltName: Full=Peptidyl-tRNA hydrolase domain-containing protein 1
gi|74736452|sp|Q6GMV3.1|PTRD1_HUMAN

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