PTRH2
Function
Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.
Involvement in disease
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
IMNEPD1
A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
Sequence Similarities
Belongs to the PTH2 family.
Cellular localization
- Mitochondrion outer membrane
- Single-pass membrane protein
Alternative names
BIT1, PTH2, CGI-147, PTRH2, PTH 2, Bcl-2 inhibitor of transcription 1