Pyrroline-5-carboxylate reductase 1, mitochondrial is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''PYCR1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of
pyrroline-5-carboxylate
1-Pyrroline-5-carboxylic acid (systematic name 3,4-dihydro-2H-pyrrole-2-carboxylic acid) is a cyclic imino acid. Its conjugate base and anion is 1-pyrroline-5-carboxylate (P5C). In solution, P5C is in spontaneous equilibrium with glutamate-5-se ...
to
proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms.
As reported by
Bruno Reversade
Bruno Reversade (born 1978) is an American human geneticist and developmental biologist . He is a Director of the Institute of Molecular and Cellular Biology and the Genome Institute of Singapore at A*STAR (Singapore) and holds several faculty ...
and colleagues, PYCR1 deficiency in humans causes a
progeroid disease known as
De Barsy Syndrome
De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that c ...
mainly affecting connective tissues with
dermis thinning and bone fragility.
References
Further reading
*
*
*
*
*
*
*
*
*
External links
PDBe-KBprovides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)
{{gene-17-stub