Thymidine phosphorylase (TYMP) catalyzes the reversible phosphorolysis of thymidine. It is essential for mitochondrial DNA maintenance. TYMP mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a severe multisystem disorder with leukoencephalopathy and peripheral neuropathy.
TYMP (Thymidine Phosphorylase) is a gene located on chromosome 22q13 that plays an important role in neurodegenerative disease. Mutations in TYMP are associated with Mitochondrial Neurogastrointestinal Encephalomyopathy, Cancer. The gene is catalogued as NCBI Gene ID 7290 and OMIM 131400.
The TYMP gene encodes a protein involved in key neuronal functions. It is expressed in Brain, Intestines, Platelets.
Expression data is available from the Allen Human Brain Atlas.
TYMP mutations are linked to the following conditions:
Mitochondrial Neurogastrointestinal Encephalomyopathy, Cancer