PTRH2 Gene
Peptidyl-tRNA Hydrolase 2, Mitochondrial
Gene Information Card
| Symbol | PTRH2 |
|---|---|
| Full Name | Peptidyl-tRNA Hydrolase 2, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 51651 ncbi.nlm.nih.gov/gene/51651 |
| Ensembl ID | ENSG00000141367 |
| UniProt ID | Q9Y3E5 |
| OMIM ID | 608625 |
| HGNC ID | 24265 |
| Aliases | PTH2, PTH, PTHL, PTH2L |
Description
PTRH2 encodes a mitochondrial peptidyl-tRNA hydrolase that cleaves peptidyl-tRNAs, which accumulate during protein synthesis errors. This enzyme is critical for mitochondrial translation fidelity and cellular energy metabolism. Mutations in PTRH2 cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD), a rare autosomal recessive disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) | Loss-of-function mutations impair mitochondrial translation, leading to oxidative phosphorylation defects and multisystem degeneration. | OMIM #616263; ClinVar |
| Neurodegeneration with brain iron accumulation (NBIA) (possible) | Disrupted mitochondrial proteostasis may contribute to iron accumulation, though direct evidence is limited. | Case reports; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Brain | 4.1 | Low |
| Kidney | 3.8 | Low |
| Skeletal Muscle | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.1 | Hepatocellular carcinoma |
| K562 | 5.3 | Leukemia |
| HeLa | 4.8 | Cervical adenocarcinoma |
| A549 | 3.6 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Arg112Gln) | Missense | Rare | Loss of hydrolase activity; associated with IMNEPD |
| c.424C>T (p.Arg142*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most PTRH2 mutations are loss-of-function, reducing or abolishing peptidyl-tRNA hydrolase activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-tRNA hydrolase activity | • mitochondrion |
| • translation | • protein biosynthesis |
| • hydrolase activity |
Pathways
• Mitochondrial translation
• tRNA processing
Protein Summary
PTRH2 is a 179-amino acid mitochondrial protein that belongs to the peptidyl-tRNA hydrolase family. It catalyzes the cleavage of peptidyl-tRNAs, which are byproducts of abortive translation, thereby recycling tRNAs and maintaining mitochondrial translation fidelity. The protein is ubiquitously expressed, with highest levels in liver and heart. Defects in PTRH2 cause IMNEPD, characterized by developmental delay, ataxia, peripheral neuropathy, endocrine dysfunction, and exocrine pancreatic insufficiency.
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