PYCR1 Chromosome 17
Pyrroline-5-carboxylate reductase 1
Upload your DNA to see your personal genotypes for variants in PYCR1.
What This Gene Does
This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Pyrroline-5-carboxylate reductase family
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000183010
Associated Conditions (11)
Cutis laxa
PYCR1-related disorder
Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Inborn genetic diseases
Wiedemann-Rautenstrauch-like progeroid syndrome
Cervical cancer
Uterine corpus endometrial carcinoma
Lung cancer
PYCR1- related autosomal recessive cutis laxa
Abnormality of connective tissue
Key Variants
RS113491328
Conflicting classifications of pathogenicity
Cutis laxa, PYCR1-related disorder, Cutis laxa
Health Risk
RS1265069029
Conflicting classifications of pathogenicity
Cutis laxa, Cutis laxa
Health Risk
RS138261889
Conflicting classifications of pathogenicity
Cutis laxa, Cutis laxa
Health Risk
RS138792258
Conflicting classifications of pathogenicity
Cutis laxa, PYCR1-related disorder, Cutis laxa
Health Risk
RS142458410
Conflicting classifications of pathogenicity
Cutis laxa, Cutis laxa
Health Risk
RS147653673
Conflicting classifications of pathogenicity
Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome, Cutis laxa
Health Risk
RS148883988
Conflicting classifications of pathogenicity
Cutis laxa, Cutis laxa
Health Risk
RS149683289
Conflicting classifications of pathogenicity
Health Risk
RS150227130
Conflicting classifications of pathogenicity
Cutis laxa, Cutis laxa
Health Risk
RS150914837
Conflicting classifications of pathogenicity
PYCR1-related disorder, PYCR1-related disorder
Health Risk
RS2041098364
Conflicting classifications of pathogenicity
Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
Health Risk
RS281875318
Conflicting classifications of pathogenicity
PYCR1-related de Barsy syndrome, Inborn genetic diseases, Wiedemann-Rautenstrauch-like progeroid syndrome
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144346996 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, Inborn genetic diseases, Wiedemann-Rautenstrauch-like progeroid syndrome |
| RS1567923524 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, Cutis laxa |
| RS2510120701 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, Cutis laxa |
| RS755867227 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Cutis laxa, PYCR1-related de Barsy syndrome |