Title : Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Pub. Date : 2009 Jul

PMID : 19576563






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 PYCR1 plays a critical role in proline biosynthesis. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens
2 Pathogenicity of the genetic variant in PYCR1 is likely, given that a similar clinical phenotype has been documented for mutation carriers of another proline biosynthetic enzyme, pyrroline-5-carboxylate synthase. Proline pyrroline-5-carboxylate reductase 1 Homo sapiens