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Details of OPA1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| OPA1 | KIAA0567 | O60313 | OPA1_HUMAN | 4976
| ENSG00000198836
| Dynamin-like 120 kDa protein, mitochondrial
Dynamin-like 120 kDa protein, form S1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Optic atrophy 1 (OPA1) [MIM:165500]: A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. Note=The disease is caused by mutations affecting the gene represented in this entry. |
165500 |
Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes. Note=The disease is caused by mutations affecting the gene represented in this entry. |
125250 |
