FDX2

This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy.

Ferredoxin 2

Essential for heme A and Fe/S protein biosynthesis.

Mitochondrion; Mitochondrion matrix

Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL):
An autosomal recessive neuromuscular disorder characterized by childhood onset of recurrent episodes of proximal weakness and myalgia often precipitated by exercise, infections or low temperature. Additional features are optic atrophy, axonal polyneuropathy, and reversible or partially reversible leukoencephalopathy.