InterPro domain: IPR042237
General Information
- Identifier IPR042237
- Description Putative peptidyl-tRNA hydrolase PTRHD1
- Number of genes 116
- Gene duplication stats Loading...
Abstract
PTRHD1 is predicted to be peptidyl-tRNA hydrolase due to their amino acid sequence similarity. However, its real function is still not clear. Mutations in PTRHD1 cause autosomal-recessive juvenile parkinsonism and intellectual disability [ 1 ].
1. PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability. Mov. Disord. 33, 1814-1819
Species distribution
Gene table
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