| glycogen storage disease type VII | <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. Inheritance: autosomal recessive (12 Dec 1998) |
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| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| glycogen synthase | <enzyme> An enzyme of the transferase class that catalyses the reaction of udpglucose and (1,4-alpha-d-glucosyl)n to yield udp and 1,4-alpha-d-glucosyl)n+1. The reaction is highly regulated by allosteric effectors, by phosphorylation reactions, and by insulin. Chemical name: UDPglucose:glycogen 4-alpha-D-glucosyltransferase Registry number: EC 2.4.1.11 (12 Dec 1998) |
| glycogen synthase-d phosphatase | <enzyme> An enzyme that catalyses the conversion of phosphorylated, inactive glycogen synthase d to active dephosphoglycogen synthase I. Chemical name: (UDPglucose:glycogen 4-alpha-D-glucosyltransferase-D) phosphohydrolase Registry number: EC 3.1.3.42 (12 Dec 1998) |
| glycogen synthetase | <enzyme> An enzyme which makes amylose out of glucose molecules (a type of sugar) and attaches them to glycogen (a type of polysaccharide). (09 Oct 1997) |
| UDPglucose-glycogen glucose 1-phosphotransferase | <enzyme> Catalyses the transfer of glucose 1-phosphate onto c-6 of glucose residues in glycogen to form a phosphodiester Registry number: EC 2.7.8.- Synonym: ugg-glcptase (26 Jun 1999) |
| liver glycogen | Glycogen stored in the liver. (12 Dec 1998) |
| AMP-activated protein kinase kinase | <enzyme> An endogenous kinase kinase; reactivates the inactive form of AMP-activated protein kinase (AMP-pk); phosphorylates the 63-kD subunit of AMP-pk Registry number: EC 2.7.1.- Synonym: AMP-pk reactivator, hmg CoA reductase kinase kinase (26 Jun 1999) |
| calmodulin-dependent protein kinase IV kinase | <enzyme> Phosphorylates and activates cam-kinase iv; from brain Registry number: EC 2.7.10.- Synonym: cam-kinase iv kinase (26 Jun 1999) |
| MAPKAP kinase-2 reactivating kinase | <enzyme> A mapk-like enzyme; homologous to p42(mapk) and p44(mapk); activated by phosphorylation of serine/threonine and tyrosine residues Registry number: EC 2.7.1.- Synonym: mapkap kinase-2 rk (26 Jun 1999) |
| ribosomal protein S6 kinase kinase | <enzyme> Isolated from unfertilised xenopus eggs; a 41 kD enzyme that is associated, in vivo, with phosphorylation on threonine and tyrosine residues and, in vitro, with phosphorylation on serine as well Registry number: EC 2.7.1.- Synonym: rsk kinase (26 Jun 1999) |
| protein kinase B kinase | <enzyme> Phosphorylates and activates protein kinase b on threonine-308; requires phosphatidylinositol-3,4,5-trisphosphate Registry number: EC 2.7.10.- Synonym: upstream kinase, pkb kinase (26 Jun 1999) |
| leukocyte tyrosine kinase receptor tyrosine kinase | <enzyme> May be receptor for pre-b lymphocyte growth or differentiation factor; aa sequence given in first source Registry number: EC 2.7.1.- Synonym: ltk receptor tyrosine kinase, ltk receptor tk, ltk protein, leukocyte tyrosine kinase (ltk) (26 Jun 1999) |
| alpha,alpha-trehalose phosphorylase | <enzyme> Chemical name: alpha-d-glucopyranosyl-alpha-d-glucopyranose orthophosphate glucosyltransferase Registry number: EC 2.4.1.64 Synonym: trehalose phosphorylase (26 Jun 1999) |
| alpha-glucan phosphorylase | <enzyme> Enzyme that catalyses the sequential removal of glycosyl residues from glycogen to yield one glucose-1-phosphate per reaction. Its activity is controlled by phosphorylation (by phosphorylase kinase). (21 Jun 2000) |