Peptidyl-tRNA hydrolase domain-containing protein 1 (PTRHD1)

Peptidyl-tRNA hydrolase domain-containing protein 1 (PTRHD1) is a human protein encoded by the PTRHD1 gene on chromosome 2. It shares sequence similarity with bacterial peptidyl-tRNA hydrolases, which perform the essential function of releasing tRNAs from peptidyl-tRNAs during protein synthesis, thus recycling tRNAs for translation. Although PTRHD1 is classified based on its domain homology, recent evidence demonstrates that the human protein has only weak binding to peptidyl-tRNA and may not function as an active hydrolase. Instead, its physiological role remains to be fully determined. Mutations in PTRHD1 cause autosomal-recessive syndromes characterized by intellectual disability, childhood-onset spasticity, and parkinsonism, with variable expressivity. Pathogenic variants tend to lead to truncated or unstable protein products detectable in patient cells. PTRHD1 is expressed in many tissues, notably in the nucleus of various cell types and in subsets of immune cells. No drugs are known to interact directly with PTRHD1, and it is not presently a therapeutic target. However, its genetic and functional status is an important biomarker for familial variants of neurodevelopmental disease and early-onset parkinsonism.

Other names

PTRHD1C2orf79LOC391356Putative peptidyl-tRNA hydrolase PTRHD1Peptidyl-tRNA hydrolase domain-containing protein 1NEDPBA

Not applicable—no drugs are known to directly target PTRHD1; its mechanism in disease is likely via loss-of-function or altered protein expression.