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Details of DLAT gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| DLAT | DLTA | P10515 | ODP2_HUMAN | 1737 | ENSG00000263032 ENSG00000150768 | Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients' serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex. | --- | Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. Note=The disease is caused by mutations affecting the gene represented in this entry. | 245348 | ||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal head movements, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of salivation, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the metencephalon, Abnormality of the mouth, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the oral cavity, Abnormality of the skeletal system, Abnormality of the skull, Abnormal muscle tone, Age of onset, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Apraxia, Ataxia, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Chorea, Choreoathetosis, Cognitive impairment, Delayed gross motor development, Diminished movement, Drooling, Excessive salivation, Global developmental delay, Hyperreflexia, Hypokinesia, Infantile onset, Intellectual disability, Intellectual disability, mild, Involuntary movements, Jerky head movements, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Muscular hypotonia, Neonatal hypotonia, Neurological speech impairment, Nystagmus, Oculomotor apraxia, Onset, Onset and clinical course, Phenotypic abnormality, Poor speech, Ptosis.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Dlat | CG5261 | F23B12.5 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| DLAT | DLD | 1 | DLAT | DLD | cpx165 | no | yes | no | Known |
| DLAT | DLST | 1 | DLAT | DLST | cpx165 | no | no | no | Novel |
| PDHA1 | DLAT | 0.795159522 | PDHA1 | DLAT | cpx165; cpx292 | no | yes | yes | Known |
| OGDH | DLAT | 1 | OGDH | DLAT | cpx165 | no | no | no | Novel |
| DLAT | PDHB | 0.328006809 | DLAT | PDHB | cpx292 | no | yes | yes | Known |