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Details of SLC25A4 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SLC25A4 | ANT1 | P12235 | ADT1_HUMAN | 291 | ENSG00000151729 | ADP/ATP translocase 1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609283 | ||||||||
Phenotypes
Abnormality of cardiac ventricle, Abnormality of cardiovascular system physiology, Abnormality of eye movement, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cranial nerves, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the head, Abnormality of the heart, Abnormality of the inner ear, Abnormality of the left ventricle, Abnormality of the left ventricular outflow tract, Abnormality of the musculature, Abnormality of the myocardium, Abnormality of the nervous system, Abnormality of the seventh cranial nerve, Adult onset, Age of onset, All, Asymmetric septal hypertrophy, Autosomal dominant inheritance, Cardiomyopathy, Congestive heart failure, Cranial nerve paralysis, Death, Decreased activity of cytochrome C oxidase in muscle tissue, Depletion of mitochondrial DNA in muscle tissue, Diminished movement, EMG abnormality, EMG: myopathic abnormalities, Exercise intolerance, External ophthalmoplegia, Facial palsy, Functional abnormality of the inner ear, Functional motor problems., Generalized muscle weakness, Hearing abnormality, Hearing impairment, Heterogeneous, Hypertrophic cardiomyopathy, Hypokinesia, Malformation of the heart and great vessels, Mode of inheritance, Multiple mitochondrial DNA deletions, Muscle abnormality related to mitochondrial dysfunction, Muscle weakness, Myopathy, Onset, Onset and clinical course, Ophthalmoparesis, Ophthalmoplegia, Pace of progression, Phenotypic abnormality, Progressive disorder, Progressive external ophthalmoplegia, Ptosis, Ragged-red muscle fibers, Sensorineural hearing impairment, Subsarcolemmal accumulations of abnormally shaped mitochondria, Subvalvular aortic stenosis, Sudden death.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Slc25a4 | sesB | ant-1.1... | Sp-Slc25a4 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SLC25A5 | SLC25A4 | 0.303174951 | SLC25A5 | SLC25A4 | cpx477 | no | yes | yes | Known |