| MEDAC Syndrome | Multiple-Endocrine Deficiency Autoimmune-Candidiasis |
|---|---|
| MR | 1) Mitral Regurgitation = MI 2) Minor Response... |
| PKD | Pyruvate Kinase Deficiency |
| SCID | Severe Combined Immuno-Deficiency; 중증 복합 면역 결핍증 |
| WAGR syndrome | Wilms's Tumor Aniridia Genital Anomalies Me... |
| biotin synthetase | <enzyme> Converts dethiobiotin to biotin Registry number: EC 2.8.1.- Synonym: biotin synthase, bio2 protein, bio2 gene product (26 Jun 1999) |
|---|---|
| bis(monoacylglycero)phosphate synthetase | <enzyme> Converts phosphatidylglycerol, 1-acyl- or 2-acyllysophosphatidylglycerol to bis(monoacylglycero)phosphate Registry number: EC 2.3.1.- (26 Jun 1999) |
| branched-chain fatty acid synthetase | <enzyme> Analogous to fatty acid synthetase complex but starting with a branched chain keto acid; from bacillis subtilis Registry number: EC 2.3.1.- Synonym: bcfa synthetase (26 Jun 1999) |
| butyryl-CoA synthetase | Fatty acid thiokinase (medium chain), a ligase forming acyl-CoA's from medium-chain fatty acids and CoA with the conversion of ATP to AMP and PPi. A key step in activation of fatty acids. Synonym: acyl-activating enzyme, butyryl-CoA synthetase, octanoyl-CoA synthetase. (05 Mar 2000) |
| canavaninosuccinate synthetase | <enzyme> Aspartate + ureido homoserine + ATP yields canavaninosuccinate + AMP + ppi Registry number: EC 6.3.4.- (26 Jun 1999) |
| carbamoyl phosphate synthetase | A phosphotransferase catalyzing the formation of carbamoyl phosphate. There are two significant isozymes. Carbomoyl phosphate synthetase I is a mitochondrial enzyme that catalyses the reaction of 2ATP, NH3, CO2, and H2O to carbamoyl phosphate, 2ADP, and Pi. It is activated by N-acetylglutamate and participates in urea biosynthesis. A deficiency of carbamoyl phosphate synthetase I can result in hyperammonaemia. Carbamoyl phosphate synthetase II is a cytosolic enzyme that, under physiological conditions, uses l-glutamine as the nitrogen source (producing l-glutamate) instead of NH3, is not activated by N-acetylglutamate, and is found in pyrimidine biosynthesis. (05 Mar 2000) |
| 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) |