PYCR2 pyrroline-5-carboxylate reductase 2
Gene ID: 29920, updated on 3-Nov-2024Gene type: protein coding
Also known as: HLD10; P5CR2
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- Go to complete Gene record for PYCR2
- Go to Variation Viewer for PYCR2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Hypomyelinating leukodystrophy 10 | See labs |
Genomic context
- Location:
- 1q42.12
- Sequence:
- Chromosome: 1; NC_000001.11 (225919878..225924250, complement)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PYCR2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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