PTRHD1
Function
As a putative peptidyl-tRNA hydrolase, it might be involved in releasing tRNAs from the ribosome during protein synthesis (Probable). Some evidence, however, suggests that it lacks peptidyl-tRNA hydrolase activity (PubMed:27235175).
Involvement in disease
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
NEDPBA
An autosomal recessive disorder manifesting in late infancy or early childhood. It is characterized by developmental delay, intellectual disability, learning difficulties, behavioral abnormalities, and parkinsonism and spasticity usually developing in the third or fourth decades.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PTH2 family. PTRHD1 subfamily.
Alternative names
C2orf79, PTRHD1, Putative peptidyl-tRNA hydrolase PTRHD1, Peptidyl-tRNA hydrolase domain-containing protein 1