PTRHD1 Human

The PTRHD1 gene, also known as C2orf79, is located on chromosome 2. It encodes a protein that belongs to the peptidyl-tRNA hydrolase family. The protein consists of a peptidyl-tRNA hydrolase domain, which is responsible for its enzymatic activity. The recombinant form of this protein is often expressed in Escherichia coli for research purposes .

Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. During protein synthesis, tRNAs are charged with amino acids and incorporated into the growing polypeptide chain. Occasionally, the process is interrupted, resulting in peptidyl-tRNAs that need to be hydrolyzed to release the tRNA and peptide. PTRHD1 catalyzes this hydrolysis, ensuring that tRNAs are available for subsequent rounds of protein synthesis .

Mutations in the PTRHD1 gene have been associated with autosomal-recessive intellectual disability and parkinsonism. These mutations can lead to a loss of function of the PTRHD1 protein, disrupting the recycling of peptidyl-tRNAs and affecting protein synthesis. This disruption can have significant impacts on neuronal function and development, leading to the observed clinical symptoms .

Recombinant PTRHD1 protein is used in various research applications to study its structure, function, and role in disease. It is often expressed in Escherichia coli and purified for use in biochemical assays, structural studies, and functional analyses. The recombinant protein is also used to generate antibodies for detecting PTRHD1 in biological samples .