Alternative name(s): UDP-GlcNAc-2-epimerase/ManAc kinase Including the following 2 domains: UDP-N-acetylglucosamine 2-epimerase EC=5.1.3.14 Alternative name(s): UDP-GlcNAc-2-epimerase Uridine diphosphate-N-acetylglucosamine-2-epimerase N-a…

EC=2.7.7.30 Alternative name(s): GDP-L-fucose diphosphorylase GDP-L-fucose pyrophosphorylase Gene names Name: FPGT Synonyms: GFPP Function Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate. Functions as a salvage pa…

EC=1.1.1.271 Alternative name(s): GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase Protein FX Red cell NADP(H)-binding protein Short-chain dehydrogenase/reductase family 4E member 1 Function Two step NADP-dependent conversion of GDP-…

EC 2.4.1.83 Alternative name(s): Dolichol-phosphate mannose synthase Short name=DPM synthase Dolichyl-phosphate beta-D-mannosyltransferase Mannose-P-dolichol synthase Short name=MPD synthase Function GDP-マンノースをドリコール一リン酸に転…

Antigen X Short name=AGX Sperm-associated antigen 2 Including the following 2 domains: UDP-N-acetylgalactosamine pyrophosphorylase EC=2.7.7.- Alternative name(s): AGX-1 UDP-N-acetylglucosamine pyrophosphorylase EC=2.7.7.23 Alternative name…

EC=5.1.3.2 Alternative name(s): Galactowaldenase UDP-galactose 4-epimerase Function 二つの異なるよく似た反応を触媒する。 UDP-glucoseとUDP-galactoseの変換 UDP-N-acetylglucosamineとUDP-N-acetylgalactosamineの変換 Catalyzes two distinct but a…

type1 (*601786, 22q13.2) and type2 (*601785; 16p13.7) Function Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions By similarity. Catalytic activity Alph…

OMIM *154550 EC.5.3.1.8 Function Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Catalytic activity D-mannose 6-phosphate = D-fructose 6-phosphate. …

Neuro Mixed sensory and cerebellar ataxia Mental retardation Lab Phosphohexose isomerase deficiency Glucosephosphate isomerase deficiency Normal osmotic fragility Reduced leukocyte superoxide anion production Reduced leukocyte bactericidal…

TEXT A number sign (#) is used with this entry because the phenotype has been shown to be caused by mutation in the glucokinase gene (GCK; 138079), which maps to chromosome 7. 単一遺伝子による常染色体優性遺伝する若年発症型のインスリン非依…

OMIM #612934Inheritance - Autosomal recessive Genitourinary Kidneys Myoglobinuria Pigmenturia Muscle, Soft Tissue - Muscle cramps Exercise intolerance Mild pelvic girdle muscle weakness Rhabdomyolysis Muscle biopsy shows glycogen accumulat…