PYCR2

PYCR2 is a gene that encodes the enzyme pyrroline-5-carboxylate reductase 2 in humans. This enzyme is involved in the proline biosynthetic pathway, playing a crucial role in cell growth and antioxidant defense. Mutations in this gene have been associated with a rare form of neurodegenerative disorder.

Function

The PYCR2 gene provides instructions for making an enzyme called pyrroline-5-carboxylate reductase 2. This enzyme is found in the mitochondria, the energy-producing centers within cells. It is involved in the final step of making the amino acid proline, which is a building block of proteins. Proline is also involved in cell signaling, wound healing, and other important cellular functions.

Clinical significance

Mutations in the PYCR2 gene have been associated with a rare neurodegenerative disorder characterized by microcephaly, seizures, and developmental delay. This condition, known as PYCR2-related microcephaly-progressive leukoencephalopathy, is a severe brain disorder that affects the nervous system.

Research

Research into the PYCR2 gene and its associated protein is ongoing, with scientists seeking to better understand its role in human health and disease. This research may lead to new treatments for the neurodegenerative disorder associated with mutations in this gene.

See also

• Pyrroline-5-carboxylate reductase
• Proline
• Neurodegenerative disorders