PTRH2

PTRH2 has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency.

Full Name

Peptidyl-tRNA hydrolase 2

Function

The natural substrate for this enzyme may be peptidyl-tRNAs which drop off the ribosome during protein synthesis.
Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1.

Biological Process

Apoptotic processIEA:UniProtKB-KW
Negative regulation of anoikisManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of gene expressionManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of anoikisManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Mitochondrion

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.

PTM

Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.