PYCR2

Chr 1q42.12

pyrroline-5-carboxylate reductase 2

Aliases:: P5CR2
MANE:: ENST00000343818.11

OMIM: 616406 ↗NCBI: 29920 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PYCR2 · Q96C36

v62025-08-01

Predicted Aligned Error matrix for PYCR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.6/ 100

Confident

320 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)2%
Low(50–70)6%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypomyelinating leukodystrophy 10
0.78
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
0.66
leukodystrophy
0.41
autosomal recessive primary microcephaly
0.38
Intellectual disability
0.38
hereditary disease
0.34
metachromatic leukodystrophy
0.27
neurodegenerative disease
0.26
microcephaly
0.12
colorectal carcinoma
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pyrroline-5-carboxylate reductase 2

Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:23024808, PubMed:2722838, PubMed:6894153). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:23024808, PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492). In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+) (PubMed:2722838, PubMed:6894153)