PYCR1

PYCR1

A gene on chromosome 17q25.3 that encodes a housekeeping enzyme that catalyses the final step in proline biosynthesis using both NAD and NADP. Pyrroline-5-carboxylate reductase 1 is involved in the cellular response to oxidative stress.
References in periodicals archive ?
The researchers have revealed that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging known as "wrinkly skin syndrome.
Lead researcher Dr Bruno Reversade of Singapore's Institute of Medical Biology (IMB) says that increasing levels of the PYCR1 protein could reverse conditions that cause fast aging and wrinkly skin.
They identified the PYCR1 gene on chromosome 17 of these patients to be defective and found specific mutations in the gene that led to conditions often seen in elderly people, such as loose skin, loss of bone density, hip dislocation and cataract.