hyperprolinemia type 2

Summary
Synonym
  • hyperprolinemia type II
Definition
A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
Super Class
autosomal recessive disease hyperprolinemia
External Links
Disease Ontology
DOID:0080543
Mondo Disease Ontology
MeSH
ORDO
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P49419 Alpha-aminoadipic semialdehyde dehydrogenase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024