Disease | OMIM | Inheritance | Gene (protein) | Protein function | References |
Friedreich’s ataxia | 229300 | Ar | FXN (frataxin) | Component of iron-sulfur clusters: regulation of mitochondrial respiratory chain activity and anti-oxidant properties | 253, 254 |
HMSN-6 | 601152 | Ad | MFN2 (mitofusin-2) | Mitochondrial outer membrane GTPase: pro-fusion protein involved in maintenance of the mitochondrial network and mtDNA nucleoids (cf Opa1) | 216, 217, 255 |
HSP-7 | 607259 | Ar | SPG7 (paraplegin) | Mitochondrial inner membrane protease: cleavage of Opa-1, control of mitochondrial ribosomal assembly and degradation of misfolded proteins | 219, 256 |
Ar, autosomal recessive; Ad, autosomal dominant.