General Information:

Id: 6,874 (click here to show other Interactions for entry)
Diseases: Leber optic atrophy - [OMIM]
Homo sapiens
article
Reference: Kumar M et al.(2010) Identification of novel mitochondrial mutations in Lebers hereditary optic neuropathy Mol. Vis. 16: 782-792 [PMID: 20454697]

Interaction Information:

Comment Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description
Interaction-ID: 67140

gene/protein mutant

MT-ND6-mut

increases_activity of

disease

Leber optic atrophy