PYCR1 : pyrroline-5-carboxylate reductase 1
Description
The PYCR1 (pyrroline-5-carboxylate reductase 1) is a protein-coding gene located on chromosome 17.
The PYCR1 gene provides instructions for creating a protein that resides in mitochondria, the energy-producing components of cells. This protein is vital for mitochondrial function and plays a key role in the synthesis of proline, an essential amino acid. Proline synthesis involves a series of steps that convert glutamate into proline. PYCR1 catalyzes the final step, converting pyrroline-5-carboxylate into proline. The balance between proline and glutamate is crucial for maintaining an adequate supply of amino acids needed for protein production and energy transfer within the cell.
The PYCR1 protein is a housekeeping enzyme responsible for the final step in the creation of proline, an essential amino acid. This protein can use both NAD and NADP as cofactors, but demonstrates a stronger preference for NAD. PYCR1 plays a crucial role in the cell's response to oxidative stress.
PYCR1 is also known as ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR.
Associated Diseases
- Cutis laxa, autosomal recessive, type IIIB
- Cutis laxa, autosomal recessive, type IIB
- Geroderma osteodysplastica
- Cutis laxa
