Metazoan complexes |
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Details of DLD gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| DLD | GCSL,LAD,PHE3 | P09622 | DLDH_HUMAN | 1738 | ENSG00000091140 | Dihydrolipoyl dehydrogenase, mitochondrial | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis. | --- | Maple syrup urine disease (MSUD) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. Note=The disease is caused by mutations affecting the gene represented in this entry. | 248600 |
Phenotypes
Abdominal symptom, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal glucose homeostasis, Abnormal hair quantity, Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of blood glucose concentration, Abnormality of body weight, Abnormality of branched chain family amino acid metabolism, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of coordination, Abnormality of eye movement, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pancreas physiology, Abnormality of pyramidal motor function, Abnormality of skin adnexa, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrospinal fluid, Abnormality of the cerebrum, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the glial cells, Abnormality of the hair, Abnormality of the hindbrain, Abnormality of the integument, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the pancreas, Abnormality of the posterior segment of the eye, Abnormality of the respiratory system, Abnormality of the retina, Abnormal muscle tone, Abnormal pattern of respiration, Acidosis, Age of onset, All, Ataxia, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cerebral edema, Cognitive impairment, Coma, Decreased body weight, Dysarthria, Dystonia, Edema, Elevated plasma branched chain amino acids, Emotional lability, Failure to thrive, Functional respiratory abnormality, Gliosis, Growth abnormality, Hallucinations, Heterogeneous, Hyperreflexia, Hypertonia, Hypertrichosis, Hypoglycemia, Increased CSF lactate, Increased serum lactate, Infantile onset, Intellectual disability, Ketosis, Lactic acidosis, Lethargy, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Nausea and vomiting, Neurological speech impairment, Nystagmus, Onset, Onset and clinical course, Ophthalmoparesis, Ophthalmoplegia, Optic atrophy, Pace of progression, Pancreatitis, Phenotypic abnormality, Pigmentary retinopathy, Progressive disorder, Reduced consciousness/confusion, Respiratory insufficiency, Seizures, Spasticity, Vomiting.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Dld | CG7430 | dld-1 | Sp-Dld |
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 |
DLD | OGDH | 1 | DLD | OGDH | cpx165 | no | yes | yes | Known |
DLD | DLST | 1 | DLD | DLST | cpx165 | no | yes | yes | Known |
DLD | PDHA1 | 0.288901945 | DLD | PDHA1 | cpx165 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
DLD | CTH | 0.100798108 | DLD | CTH |
DLD | SDHB | 0.374490103 | DLD | SDHB |
DLD | ISYNA1 | 0.140292333 | DLD | ISYNA1 |
ACAT1 | DLD | 0.073770042 | ACAT1 | DLD |
SDHA | DLD | 0.174251536 | SDHA | DLD |
DLD | CAPZB | 0.113997473 | DLD | CAPZB |
NDUFS2 | DLD | 0.113399529 | NDUFS2 | DLD |
DLD | SUCLG2 | 0.072139278 | DLD | SUCLG2 |
DLD | DHTKD1 | 0.159439455 | DLD | DHTKD1 |
DLD | ALDOC | 0.112073135 | DLD | ALDOC |
HSD17B10 | DLD | 0.139887192 | HSD17B10 | DLD |
DLD | STIP1 | 0.0758915 | DLD | STIP1 |
DLD | TOMM40 | 0.113839805 | DLD | TOMM40 |
ATP1B3 | DLD | 0.077820106 | ATP1B3 | DLD |
DLD | AIFM1 | 0.158634929 | DLD | AIFM1 |
DLD | MRPL9 | 0.075175634 | DLD | MRPL9 |
DLD | SNX12 | 0.071267007 | DLD | SNX12 |
DLD | FH | 0.42780272 | DLD | FH |
VTA1 | DLD | 0.079020201 | VTA1 | DLD |
DLD | HNRNPH2 | 0.080707354 | DLD | HNRNPH2 |
DLD | HSDL2 | 0.08642361 | DLD | HSDL2 |
CSTF1 | DLD | 0.087427058 | CSTF1 | DLD |
DLD | ATP1B1 | 0.087363329 | DLD | ATP1B1 |
DLD | UCHL3 | 0.24865943 | DLD | UCHL3 |
DLD | NUDT21 | 0.091150656 | DLD | NUDT21 |