Showing entry for 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT007835
Protein Name2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Uniport IdP12694
GeneBCKDHA
Gene Id593
DomainE1_dh
Pfam PF00676  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.5 Amino acid metabolism hsa00280 Valine, leucine and isoleucine degradation
1. Metabolism 1.1 Carbohydrate metabolism hsa00640 Propanoate metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009083 branched-chain amino acid catabolic process
molecular function GO:0003863 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
molecular function GO:0003826 alpha-ketoacid dehydrogenase activity
molecular function GO:0016831 carboxy-lyase activity
molecular function GO:0046872 metal ion binding
cellular component GO:0005947 mitochondrial alpha-ketoglutarate dehydrogenase complex
cellular component GO:0005759 mitochondrial matrix
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-70895 Branched-chain amino acid catabolism
R-HSA-71291 Metabolism of amino acids and derivatives
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0003864 BXGD000231 Arthritis Musculoskeletal Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005890 BXGD000345 Body Height
C0006114 BXGD000371 Cerebral Edema Nervous System Diseases
C0009324 BXGD000597 Ulcerative Colitis Digestive System Diseases
C0009421 BXGD000608 Comatose Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0010346 BXGD000664 Crohn Disease Digestive System Diseases
C0011853 BXGD000752 Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013371 BXGD000823 Shigella Infections Digestive System Diseases; Infections
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0022638 BXGD001567 Ketosis Nutritional and Metabolic Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0024776 BXGD001802 Maple Syrup Urine Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030305 BXGD002206 Pancreatitis Digestive System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036690 BXGD002632 Septicemia Pathological Conditions, Signs and Symptoms; Infections
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0149896 BXGD003382 Primary gout Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0221248 BXGD004420 Tophus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0243026 BXGD005210 Sepsis Pathological Conditions, Signs and Symptoms; Infections
C0262361 BXGD005229 Growth abnormality
C0268568 BXGD005989 Classic Maple Syrup Urine Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0268569 BXGD005990 Intermittent Maple Syrup Urine Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0427460 BXGD008616 Red cell distribution width determination
C0574002 BXGD009497 Edema of foot (finding) Pathological Conditions, Signs and Symptoms
C0751285 BXGD010378 Maple Syrup Urine Disease, Thiamine Responsive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1304746 BXGD012343 RDW - Red blood cell distribution width result
C1621920 BXGD013467 Intermediate Maple Syrup Urine Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1855369 BXGD015493 Maple Syrup Urine Disease, Type IA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2712871 BXGD017490 Gout attack
C2930989 BXGD017929 Maple syrup urine disease, type 1A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4017152 BXGD020421 MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
C4024697 BXGD021373 Elevated plasma branched chain amino acids
C4703632 BXGD023670 Increased level of hippuric acid in urine
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002588 Magnesium 24.31
BXGC0002591 Potassium 39.1
BXGC0003705 Chloride 35.45
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein