FDX2 gene

ferredoxin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Sep 2014]

From UniProt:

Essential for heme A and Fe/S protein biosynthesis.

From NCBI Gene:

  • Mitochondrial myopathy

From UniProt:

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. [MIM:251900]

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2

Molecular Location: base pairs 10,310,045 to 10,316,015 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 19p13.2, which is the short (p) arm of chromosome 19 at position 13.2
  • FDX1L
  • MEOAL