PTRH1

Description

The PTRH1 (peptidyl-tRNA hydrolase 1 homolog) is a protein-coding gene located on chromosome 9.

PTRH1, a peptidyl-tRNA hydrolase, plays a crucial role in the ribosome-associated quality control (RQC) pathway. It cleaves nascent chains-tRNAs that are not securely attached to the P-site of 60S ribosome-nascent chain complexes. This cleavage releases non-ubiquitinated nascent chains from 60S and 80S ribosome-nascent chain complexes. However, PTRH1 does not act on ubiquitinated nascent chains, which are instead cleaved by ANKZF1 for degradation.

PTRH1 is also known as C9orf115, PTH1.

Associated Diseases

• non-syndromic intellectual disability
• carcinoma of liver and intrahepatic biliary tract
• developmental and epileptic encephalopathy, 4
• developmental and epileptic encephalopathy
• cancer