integrating domain variants of CPS1 [mitochondrial matrix]

Stable Identifier
R-HSA-9955380
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
domain of unknown functional significance
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
21120950 Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Häberle, J, Shchelochkov, OA, Wang, J, Katsonis, P, Hall, L, Reiss, S, Eeds, A, Willis, A, Yadav, M, Summar, S, Urea Cycle Disorders Consortium, -, Lichtarge, O, Rubio, V, Wong, LJ, Summar, M

Hum Mutat 2011
24813853 Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function

Diez-Fernandez, C, Hu, L, Cervera, J, Häberle, J, Rubio, V

Mol Genet Metab 2014
Participants
members
candidates
Participates
as a member of
Disease
Name Identifier Synonyms
carbamoyl phosphate synthetase I deficiency disease DOID:9280 CPS I deficiency
Cross References
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