Harmonizome 3.0

optic atrophy 6 (autosomal recessive)

optic atrophy 4 (autosomal dominant)

optic atrophy 5 (autosomal dominant)

optic atrophy 2 (obscure)

optic atrophy 1 (autosomal dominant)

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

spastic paraplegia, optic atrophy, and neuropathy

Leber optic atrophy, susceptibility to

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures plus, type 6

Epilepsy, generalized, with febrile seizures plus, type 4

Cavitary optic disc anomalies

Gustavson mental retardation syndrome (with microcephaly, optic

progressive bifocal chorioretinal atrophy 1

cerebellar atrophy with progressive microcephaly

Spinal muscular atrophy, chronic distal, autosomal recessive

spinal muscular atrophy, congenital nonprogressive, of lower limbs

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

Spinal muscular atrophy, Jokela type