Rabbit anti-Human PTRH2 Polyclonal Antibody

Uniprot Id

Q9Y3E5

Target Species

Human

Target Name

PTRH2

Target Full Name

Peptidyl-tRNA hydrolase 2, mitochondrial

Target 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.

Target Involvement

Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset (IMNEPD)

Target Subcellular Location

Mitochondrion.

Target Protein Families

PTH2 family

Target Synonyms

PTH; BIT1; PTH2; PTH 2; CFAP37; IMNEPD; CGI-147; PTRH2

Target Background

The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene 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 (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms.