PYCR2 Chromosome 1
Pyrroline-5-carboxylate reductase 2
Upload your DNA to see your personal genotypes for variants in PYCR2.
What This Gene Does
This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Pyrroline-5-carboxylate reductase family"
Locus Type
gene with protein product
Location
1q42.12
Ensembl
ENSG00000143811
Associated Conditions (3)
Hypomyelinating leukodystrophy 10
Inborn genetic diseases
Leukodystrophy
Key Variants
RS1008290173
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS112885589
Conflicting classifications of pathogenicity
Health Risk
RS1210762206
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS1450223894
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS149894811
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Inborn genetic diseases, Hypomyelinating leukodystrophy 10
Health Risk
RS376952965
Conflicting classifications of pathogenicity
Health Risk
RS758595075
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS763294561
Conflicting classifications of pathogenicity
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS1239964151
Likely pathogenic
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS1473859981
Likely pathogenic
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS149587849
Likely pathogenic
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
RS1553500497
Likely pathogenic
Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008290173 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS112885589 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1210762206 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1450223894 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS149894811 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Inborn genetic diseases, Hypomyelinating leukodystrophy 10 |
| RS376952965 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758595075 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS763294561 | Health Risk | Conflicting classifications of pathogenicity | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1239964151 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1473859981 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS149587849 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1553500497 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1671854739 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1671854827 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1671863383 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS2102672881 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS372781135 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS745824721 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS754349088 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886037932 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS1179891604 | Health Risk | Pathogenic | — |
| RS2102672664 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS2465058221 | Health Risk | Pathogenic | — |
| RS876657403 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS886037931 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 10, Leukodystrophy, Hypomyelinating leukodystrophy 10 |
| RS886037933 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS997930135 | Health Risk | Pathogenic | — |
| RS201784173 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS2102672892 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS35240460 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |
| RS886043378 | Health Risk | Pathogenic/Likely pathogenic | Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10 |