Literature summary for 6.3.4.16 extracted from

Klaus, V.; Vermeulen, T.; Minassian, B.; Israelian, N.; Engel, K.; Lund, A.M.; Roebrock, K.; Christensen, E.; Haeberle, J.
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? (2009), Clin. Genet., 76, 263-269.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene CPS1 is located on chromosome 2q35, genotyping and cloning of wild-type and mutant CPSIs in Cos7 and HeLa cells, which show increased activity with the wild-type gene, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	metabolic profiles of CPSI heterozygous mutants, mutations are splice site mutation c.4101 + 2T - C and c.3558 + 1G - C, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene CPSI	-

Synonyms

Synonyms	Comment	Organism
carbamylphosphate synthetase 1	-	Homo sapiens
CPS1	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 causes hyperammonemia with a vast range of clinical severity from neonatal onset with early lethality to onset after age 40 with rare episodes of hyperammonemic confusion, phenotypes of patients heterozygous for two mutations of the CPS1 gene, overview	Homo sapiens

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Release 2023.1 (January 2023)