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Details of ACADS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ACADS | --- | P16219 | ACADS_HUMAN | 35 | ENSG00000122971 | Short-chain specific acyl-CoA dehydrogenase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]: An inborn error of mitochondrial fatty acid beta- oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. Note=The disease is caused by mutations affecting the gene represented in this entry. | 201470 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormality of acid-base homeostasis, Abnormality of body weight, Abnormality of carboxylic acid metabolism, Abnormality of connective tissue, Abnormality of dicarboxylic acid metabolism, Abnormality of eye movement, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the cranial nerves, Abnormality of the curvature of the vertebral column, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the head, Abnormality of the heart, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the seventh cranial nerve, Abnormality of the skeletal system, Abnormality of the vertebral column, Abnormal joint morphology, Abnormal muscle tone, Acidosis, Age of onset, All, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Cardiomyopathy, Congenital onset, Cranial nerve paralysis, Decreased body weight, Diminished movement, Episodic metabolic acidosis, Ethylmalonic aciduria, External ophthalmoplegia, Facial palsy, Failure to thrive, Flexion contracture, Growth abnormality, Hypokinesia, Lethargy, Malformation of the heart and great vessels, Metabolic acidosis, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Myopathy, Onset, Onset and clinical course, Ophthalmoparesis, Ophthalmoplegia, Phenotypic abnormality, Phenotypic variability, Psychosis, Reduced consciousness/confusion, Scoliosis, Seizures.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Acads | Arc42 | --- | Sp-Acads_1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CRKL | ACADS | 0.031296533 | CRKL | ACADS | cpx281 | no | no | no | Novel |
| SEPHS1 | ACADS | 0.955866581 | SEPHS1 | ACADS | cpx192; cpx281 | no | yes | no | Known |
| ACADS | CLIC4 | 0.079231664 | ACADS | CLIC4 | cpx192 | no | no | no | Novel |