PYCR3

Chr 8

pyrroline-5-carboxylate reductase 3

Also known as: PYCRL

NCBI Gene: 65263 ENSG00000104524 UniProt: Q53H96

The protein catalyzes the final step in proline biosynthesis, reducing pyrroline-5-carboxylate to proline using NADH/NADPH, and is specifically involved in the ornithine-to-proline biosynthetic pathway. Biallelic mutations cause autosomal recessive hypomyelinating leukodystrophy-10, presenting in infancy with severe developmental delays, hypotonia, seizures, and progressive brain atrophy. The gene shows low constraint to loss-of-function variation, consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.43

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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