ornithine carbamoyltransferase deficiency

Summary
Synonym
  • deficiency of citrulline phosphorylase
  • ornithine transcarbamylase deficiency
Definition
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Super Class
urea cycle disorder
External Links
Disease Ontology
DOID:9271
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
2752 GLUL glutamate-ammonia ligase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P15104 Glutamine synthetase

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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