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Details of SUCLG1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SUCLG1 | --- | P53597 | SUCA_HUMAN | 8802 | ENSG00000163541 | Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mitochondrial DNA depletion syndrome 9 (MTDPS9) [MIM:245400]: A severe disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Note=The disease is caused by mutations affecting the gene represented in this entry. | 245400 | ||||||||
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of higher mental function, Abnormality of ion homeostasis, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of phosphate homeostasis, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the genitourinary system, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the respiratory system, Abnormality of the skin, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Acidosis, Aciduria, All, Aminoaciduria, Ataxia, Cognitive impairment, Encephalopathy, Functional respiratory abnormality, Gait disturbance, Growth abnormality, Growth delay, Hyperventilation, Hypophosphatemia, Intellectual disability, Intermittent hyperpnea at rest, intermittent hyperventilation, Lactic acidosis, Morphological abnormality of the central nervous system, Muscular hypotonia, Phenotypic abnormality, Poor motor coordination, Renal aminoaciduria, Seizures, Unsteady gait.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Suclg1 | Scsalpha | C05G5.4... | Sp-Suclg1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SUCLG2 | SUCLG1 | 0.912012297 | SUCLG2 | SUCLG1 | cpx776 | yes | yes | no | Known |
| SUCLG1 | SUCLA2 | 0.999999962 | SUCLG1 | SUCLA2 | cpx456 | yes | yes | yes | Known |