Anti-PYCR1 Antibody, clone 2D9.1 clone 2D9.1, from mouse

Pyrroline-5-carboxylate reductase 1, mitochondrial (EC 1.5.1.2; UniProt P32322; also known as P5C reductase 1, P5CR 1) is encoded by the PYCR1 (also known as ARCL2B, ARCL3B) gene (Gene ID 5831) in human. Pyrroline-5-carboxylate (P5C) reductase (PYCR1) is a mitochondrial enzyme that utilizes NAD(P)H as cofactor and catalyzes the convertion of P5C to L-proline, as well as the coversion of Δ1-piperideine-6-carboxylate (P6C) to L-pipecolic acid, both of which are intermediates in the catabolism pathway of the essential amino acid L-lysine. PYCR1 gene mutations are associated with the autosomal recessive disorder cutis laxa type II, menifested with premature aging features such as joint laxity and wrinkled/lax skin, as well as developmental delay.