Recommended name: Glycogen debranching enzyme Alternative name(s): Glycogen debrancher Including the following 2 domains: 4-alpha-glucanotransferase EC=2.4.1.25 Alternative name(s): Oligo-1,4-1,4-glucantransferase Amylo-alpha-1,6-glucosida…

Lysosomal alpha-glucosidase EC=3.2.1.20 Alternative name(s): Acid maltase Aglucosidase alfa Cleaved into the following 2 chains: 76 kDa lysosomal alpha-glucosidase 70 kDa lysosomal alpha-glucosidase Function Essential for the degradation o…

Short name=PKC-A Short name=PKC-alpha EC=2.7.11.13 Gene names Name: PRKCA Synonyms: PKCA, PRKACA Function カルシウムで活性化されるリン脂質とジアシルグリセロール依存性のセリン・トレオニンキナーゼで、細胞の増殖、アポトーシス、分化、遊走、接…

151410 Description 正常なBCR遺伝子産物は160kDaのセリントレオニンキナーゼ活性をもつリン酸化タンパク質である。 BCR遺伝子は慢性骨髄性白血病と急性リンパ性白血病に見られるふたつのフィラデルフィア染色体の転座に関わるブレイクポイントである。 BCR…

#608232 TEXT A number sign (#) is used with this entry because chronic myeloid leukemia is most frequently caused by a translocation between chromosomes 22 and 9, creating a BCR/ABL fusion gene encoding a tyrosine kinase (see 151410). Clin…

Santer et al. (1997) noted that a functional loss of GLUT2 is compatible with the clinical symptoms observed in subjects with FBS. Hyperglycemia (and hypergalactosemia) in the fed state can be explained by decreased monosaccharide uptake b…

Glycogen storage disease type 1 (GSD-1), also known as von Gierke disease, is caused by a deficiency in the activity of the enzyme glucose-6-phosphatase (G6Pase). It is an autosomal recessive disorder characterized by hypoglycemia, hepatom…

TEXT A number sign (#) is used with this entry because aldolase A deficiency, also known as glycogen storage disease XII (GSD12), is caused by homozygous mutation in the ALDOA gene (103850). Description Aldolase A deficiency is an autosoma…

脱力、不整脈。心臓に異常な蓄積物が生じることに因る。 運動後に目眩と動悸を訴えた。心室細動を認め入院。除細動。 a 27-year-old man who had muscle weakness associated with the depletion of glycogen in skeletal muscle and cardiac arrhythmias as…

EC3.1.3.9 小胞体・膜に存在し、内腔で活性を示す。肝臓にあり、脳、骨格筋には存在しない。 細胞質中のグルコース6-リン酸は輸送体T1により小胞体内宮に入り加水分解されグルコースを生じる。グルコースとリン酸は各々輸送体T2、T3により細胞質に戻される。…

3'-phosphoadenylyl sulfate PAPS 活性硫酸のひとつ。硫酸イオンよりアデニリル硫酸（APS）を経てアデニリル硫酸キナーゼにより合成される。硫酸をPAPSに変換するにはATP三分子分のエネルギーが必要である。 コリン、ステロイド、セラミド、フェノール、コン…

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase EC=2.7.8.15 Alternative name(s): GlcNAc-1-P transferase Short name=G1PT Short name=GPT N-acetylglucosamine-1-phosphate transferase Gene names Name: DPAGT1 Sy…

Phosphoglucomutase-1 グリコーゲン代謝で重要。α配置のグルコースリン酸を変換する。欠損は糖原病14型 Short name=PGM 1 EC=5.4.2.2 Alternative name(s): Glucose phosphomutase 1 Gene names Name: PGM1 Function This enzyme participates in both the b…

Alternative name(s): N-acetylneuraminate synthase EC=2.5.1.56 N-acetylneuraminate-9-phosphate synthase EC=2.5.1.57 N-acetylneuraminic acid phosphate synthase N-acetylneuraminic acid synthase Gene names Name: NANS Synonyms: SAS Function Pro…

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…

高分子糖タンパク質で、細胞表面、細胞外液、結合式、基底膜にある。他の細胞外マトリックスタンパク質や細胞のリガンド（コラーゲン、フィブリン、インテグリンなど）と相互作用する。細胞の接着、移動に関与する。可溶化と細胞型二つの型がある。 間質に存…

The original functional discovery of VEGF, which was initially called vascular permeability factor (VPF). Increased vascular permeability can facilitate leakage of plasma proteins such as fibrinogen, which can then form an extracellular fi…

CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein ho…

CYCLIN-DEPENDENT KINASE INHIBITOR 1A : p21 DNAダメージに対する細胞応答で重要。過剰に発現すると細胞周期が停止する。電離放射線に因る曝露に引き続きp53依存性に発現が増加し、チェックポイント制御に基づく細胞周期の停止をもたらす。 CDKN1A plays a …

ユビキチン連結酵素。 ユビキチン結合酵素（E2)と標的タンパク質の2つの結合部位を持ち、E2から標的タンパク質へユビキチン化を触媒する。 E1、E2と共同で、タンパク質をユビキチン化しする翻訳後修飾系。 ポリユビキチン化された標的タンパク質は26Sプロテ…