Showing entry for Methylmalonic aciduria and homocystinuria type C protein


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT022285
Protein NameMethylmalonic aciduria and homocystinuria type C protein
Uniport IdQ9Y4U1
GeneMMACHC
Gene Id25974
DomainMMACHC
Pfam PF16690  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
5. Organismal Systems 5.4 Digestive system hsa04977 Vitamin digestion and absorption
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0009235 cobalamin metabolic process
Biological Process GO:0070988 demethylation
Biological Process GO:0006749 glutathione metabolic process
Biological Process GO:0055114 oxidation-reduction process
molecular function GO:0031419 cobalamin binding
molecular function GO:0033787 cyanocobalamin reductase (cyanide-eliminating) activity
molecular function GO:0032451 demethylase activity
molecular function GO:0071949 FAD binding
molecular function GO:0043295 glutathione binding
molecular function GO:0016491 oxidoreductase activity
molecular function GO:0042803 protein homodimerization activity
molecular function GO:0016740 transferase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-3296469 Defects in cobalamin (B12) metabolism
R-HSA-3296482 Defects in vitamin and cofactor metabolism
R-HSA-3359473 Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
R-HSA-3359474 Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
R-HSA-5668914 Diseases of metabolism
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002888 BXGD000145 Anemia, Megaloblastic Hemic and Lymphatic Diseases
C0003123 BXGD000178 Anorexia Pathological Conditions, Signs and Symptoms
C0011206 BXGD000703 Delirium Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0013144 BXGD000800 Drowsiness Mental Disorders
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0017925 BXGD001156 Glycogen Storage Disease Type VI Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0018965 BXGD001258 Hematuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0019061 BXGD001273 Hemolytic-Uremic Syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases
C0019880 BXGD001351 Homocystinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027947 BXGD002061 Neutropenia Hemic and Lymphatic Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0031485 BXGD002303 Phenylketonurias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0033687 BXGD002415 Proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040038 BXGD002837 Thromboembolism Cardiovascular Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042847 BXGD003006 Vitamin B 12 Deficiency Nutritional and Metabolic Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0152421 BXGD003586 Macrotia
C0220981 BXGD004348 Metabolic acidosis Nutritional and Metabolic Diseases
C0234133 BXGD004624 Extrapyramidal sign
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238801 BXGD004957 Bone marrow megaloblastic (finding)
C0239234 BXGD004974 Low set ears
C0239676 BXGD004989 High forehead
C0268583 BXGD005997 Methylmalonic acidemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268616 BXGD006010 Gamma-cystathionase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0268618 BXGD006011 Cystathioninemia
C0276096 BXGD006401 Mastitis-metritis-agalactia syndrome Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0432072 BXGD008718 Dysmorphic features
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0557874 BXGD009444 Global developmental delay
C0751434 BXGD010439 Classical phenylketonuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1142533 BXGD011758 Smooth philtrum
C1272348 BXGD012012 Disorder of vitamin B12
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1611743 BXGD013456 Familial (FPAH)
C1737329 BXGD013728 Dysmorphism Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1836047 BXGD014074 Long face
C1848555 BXGD014939 Hypomethioninemia
C1848556 BXGD014940 Decreased adenosylcobalamin
C1848561 BXGD014941 Methylmalonic acidemia with homocystinuria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
C1848579 BXGD014942 Decreased methylmalonyl-CoA mutase activity
C1848580 BXGD014943 Decreased methionine synthase activity
C1855114 BXGD015460 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855119 BXGD015463 Methylmalonic aciduria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1962966 BXGD016678 Retinopathy, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2242817 BXGD017005 Homocysteine measurement
C2674608 BXGD017250 Feeding difficulties in infancy
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806347 BXGD019506 Hyperhomocystinemia
C4021736 BXGD020744 Decreased methylcobalamin
C4551583 BXGD023361 Cerebral cortical atrophy
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4693974 BXGD023626 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0000989 Glutathione 307.32
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