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PYCR2 pyrroline-5-carboxylate reductase 2

Gene ID: 29920, updated on 3-Nov-2024
Gene type: protein coding
Also known as: HLD10; P5CR2

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

DescriptionTests
Hypomyelinating leukodystrophy 10
MedGen: C4225332OMIM: 616420GeneReviews: Not available
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Genomic context

Location:
1q42.12
Sequence:
Chromosome: 1; NC_000001.11 (225919878..225924250, complement)
Total number of exons:
7

Links

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