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Details of TIMM8A gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| TIMM8A | DDP,DDP1,TIM8A | O60220 | TIM8A_HUMAN | 1678 | ENSG00000126953 ENSG00000268249 | Mitochondrial import inner membrane translocase subunit Tim8 A | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: Recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. Note=The disease is caused by mutations affecting the gene represented in this entry. | 304700 | Jensen syndrome (JENSS) [MIM:311150]: X-linked disease characterized by deafness, blindness and muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this entry. | 311150 | ||||||
Phenotypes
Abnormal electroretinogram, Abnormality of central motor function, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of pyramidal motor function, Abnormality of refraction, Abnormality of skeletal physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the ear, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the inner ear, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the skeletal system, Abnormality of vision, Abnormal posturing, Age of onset, All, Behavioural/Psychiatric Abnormality, Blindness, Childhood onset sensorineural hearing impairment, Cognitive impairment, Constricted visual fields, Dementia, Dysarthria, Dysphagia, Dystonia, Functional abnormality of the inner ear, Gonosomal inheritance, Hearing abnormality, Hearing impairment, Hyperreflexia, Hypertonia, Increased susceptibility to fractures, Infantile sensorineural hearing impairment, Juvenile onset, Mental deterioration, Mode of inheritance, Myopia, Neurological speech impairment, Onset, Onset and clinical course, Optic atrophy, Phenotypic abnormality, Photophobia, Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Spasticity, Tremor, Visual field defect, Visual impairment, X-linked inheritance, X-linked recessive inheritance.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| --- | tim-8 | --- | |||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| TIMM13 | TIMM8A | 0.841922524 | TIMM13 | TIMM8A | cpx383 | no | yes | yes | Known |