Gene table of PYCR2 : pyrroline-5-carboxylate reductase family member 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PYCR2OMIM linkNumber of associated genesgenes
PS312080LEUKODYSTROPHY, HYPOMYELINATINGClinVar, OMIM, HUMSAVAR link to OMIM 13PYCR2, POLR3A, HIKESHI, AIMP1, RARS, POLR3B, VPS11, PLP1, HSPD1, POLR1C, FAM126A, GJC2, TUBB4A

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Annotation of the gene PYCR2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Biosynthesis of amino acidshsa012306.58
Metabolic pathwayshsa011002.49
Arginine and proline metabolismhsa003306.84
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
oxidoreductase activityGO:00164913.12
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptorGO:00166466.79
oxidoreductase activity, acting on the CH-NH group of donorsGO:00166456.41
pyrroline-5-carboxylate reductase activityGO:00047358.13