Showing entry for Mitochondrial genome maintenance exonuclease 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT020114
Protein NameMitochondrial genome maintenance exonuclease 1
Uniport IdQ9BQP7
GeneMGME1
Gene Id92667
DomainPDDEXK_1
Pfam PF12705  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0043504 mitochondrial DNA repair
Biological Process GO:0006264 mitochondrial DNA replication
Biological Process GO:0000002 mitochondrial genome maintenance
molecular function GO:0008297 single-stranded DNA exodeoxyribonuclease activity
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011991 BXGD000766 Diarrhea Pathological Conditions, Signs and Symptoms
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0013911 BXGD000867 Emaciation Pathological Conditions, Signs and Symptoms
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0027497 BXGD001993 Nausea Pathological Conditions, Signs and Symptoms
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0033300 BXGD002403 Progeria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162292 BXGD003930 External Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0162674 BXGD003973 Chronic progressive external ophthalmoplegia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0232462 BXGD004542 Decrease in appetite Digestive System Diseases; Nervous System Diseases; Mental Disorders
C0235063 BXGD004718 Respiratory Depression Respiratory Tract Diseases
C0239998 BXGD005012 Recurrent infections Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0339693 BXGD007279 Internal Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0392525 BXGD008052 Nephrolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0393519 BXGD008078 Cerebellar Ataxia, Early Onset Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0424551 BXGD008533 Impaired exercise tolerance
C0427055 BXGD008601 Facial Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0566620 BXGD009490 Nasal voice
C0575157 BXGD009514 Deformity of spine
C0740279 BXGD009973 Cerebellar atrophy
C0751401 BXGD010427 Ophthalmoparesis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0948896 BXGD011563 Primary hypogonadism Endocrine System Diseases
C0949855 BXGD011587 Electron Transport Chain Deficiencies, Mitochondrial Nutritional and Metabolic Diseases
C0949856 BXGD011588 Oxidative Phosphorylation Deficiencies Nutritional and Metabolic Diseases
C0949857 BXGD011589 Mitochondrial Respiratory Chain Deficiencies Nutritional and Metabolic Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1261502 BXGD011856 Finding of Mean Corpuscular Hemoglobin
C1389113 BXGD012965 Generalized amyotrophy
C1527344 BXGD013275 Dysphonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1837098 BXGD014198 Easy fatigability
C1850794 BXGD015178 Proximal amyotrophy
C1858025 BXGD015760 Spinal rigidity
C3275417 BXGD018663 Ragged-red muscle fibers
C3554462 BXGD019216 MITOCHONDRIAL DNA DEPLETION SYNDROME 11
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806467 BXGD019513 Respiratory insufficiency due to muscle weakness Respiratory Tract Diseases
C4022493 BXGD020908 Decreased mitochondrial number
C4551563 BXGD023351 Microcephaly (physical finding)
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0000696 Tartaric acid 150.09
BXGC0002586 Calcium 40.08
BXGC0049447 acetate 59.01
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