| carbamoylphosphate synthetase deficiency | <biochemistry> Carbamoylphosphate synthetase is the initial enzyme of the urea cycle, catalysing the synthesis of carbamoylphosphate from ammonia, bicarbonate and ATP as the first step of ammonia detoxification. The enzyme is an intramitochondrial form called CPS I. A different isozyme found in the cytoplasm, called CPS II, is much less active and apparently not involved in the urea cycle. The deficiency state is autosomal recessive and presents in infancy with massive hyperammonaemia and neurologic deficits in survivors. Diagnosis is suggested by the blood biochemistry and confirmed by specific enzyme assay on liver or rectal biopsy. Prenatal diagnosis by molecular methods has been used successfully in informative families. Inheritance: autosomal recessive. (07 Apr 1998) |
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| carcinine synthetase | <enzyme> Requires ATP, beta-alanine, histamine, magnesium and dithiothreitol; forms beta-alanylhistamine(=carcinine) Registry number: EC 6.3.2.- (26 Jun 1999) |
| cardiolipin synthetase | <enzyme> Catalyses phosphatidylglycerol and cdpdiglyceride to cmp and diphosphatidylglycerol (cardiolipin); minor descriptor (75-83); on-line and index medicus search phosphotransferases (75-83) Registry number: EC 2.7.8.- Synonym: cardiolipin synthase, cls gene product, e. Coli, nov gene product, e. Coli (26 Jun 1999) |
| carnosine synthetase | <enzyme> Also forms homocarnosine Registry number: EC 6.3.2.11 Synonym: homocarnosine-carnosine synthetase (26 Jun 1999) |
| p18 component, aminoacyl tRNA synthetase | <enzyme> Shares a protein motif with the beta and gamma subunits of eukaryotic elongation factor 1; amino acid sequence given in first source Registry number: EC 6.1.1.- Synonym: p18 aminoacyl-trna synthase (26 Jun 1999) |
| galactose-diphosphoglycosyl carrier lipid synthetase | <enzyme> Catalyses synthesis of gcl-pp-gal from udp gal and p-gcl; also catalyses exchange between the uridylyl moiety of udpgal and ump Registry number: EC 2.4.1.- (26 Jun 1999) |
| gamma-glutamylhistamine synthetase | <enzyme> Incorporates histamine or other amines into peptide linkage with glutamate; from aplysia ganglia Registry number: EC 6.3.2.- Synonym: gamma-gha synthetase, gamma-glutamyl amine synthetase, gamma-glutamyl octopamine synthetase, gamma-glutamyl tyramine synthetase (26 Jun 1999) |
| GDPfucose synthetase | <chemical> Gdpmannose is converted to GDP-4-keto-6-deoxymannose by EC 4.2.1.47; the latter is then reduced by NADPH to GDPfucose Chemical name: synthetase, guanosine diphosphofucose (26 Jun 1999) |
| PAPS synthetase | <chemical> Consists of ATP sulfurylase (EC 2.7.7.4) and adenylylsulfate kinase (EC 2.7.1.25) Synonym: phosphoadenosine phosphosulfate synthetase (26 Jun 1999) |
| mannan synthetase | <enzyme> From third internode of aetiolated pea seedlings; synthesises beta-1,4-mannan from GDP-d-mannose Registry number: EC 2.4.1.- Synonym: beta-1,4-mannan synthase (26 Jun 1999) |
| casbene synthetase | <enzyme> From castor bean (ricinus communis); catalyses the cyclization of geranylgeranylpyrophosphate to form the macrocyclic diterpene casbene Registry number: EC 4.6.1.7 Synonym: casbene synthase (26 Jun 1999) |
| glutamine synthetase | <enzyme> An enzyme which makes the amino acid glutamine by attaching a molecule of ammonia (NH3) to the amino acid glutamic acid. (09 Oct 1997) |
| glutaminyl-tRNA synthetase | <enzyme> Pi read RNA, soluble (70-75), but had to be deleted since no longer an active mh Registry number: EC 6.1.1.18 Synonym: glnrs (26 Jun 1999) |
| glutathione synthetase | <enzyme> An enzyme that catalyses the formation of glutathione, ADP, and orthophosphate from gamma-glutamylcysteine, ATP, and glycine; a deficiency will lead to metabolic acidosis and progressive brain dysfunction. (05 Mar 2000) |
| glutathione synthetase deficiency | An inborn error of metabolism associated with massive urinary excretion of 5-oxyproline, elevated levels of 5-oxyproline in the blood and cerebrospinal fluid, severe metabolic acidosis, tendency toward haemolysis, and defective central nervous systems function. Glutathione synthetase deficiency has been reported as a generalised condition or with a deficiency restricted to erythrocytes. (05 Mar 2000) |