PTRH2 and neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1: Additionally, PTRH2 plays a crucial role in regulating cell survival and apoptosis, as well as influencing muscle differentiation during human development; therefore, mutations in the PTRH2 gene that impair its function can lead to congenital IMNEPD [4,5,6].