FDX2 ferredoxin 2

Gene ID: 112812, updated on 5-Mar-2024
Gene type: protein coding
Also known as: FDX1L; MEOAL

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MedGen: C5193223OMIM: 251900GeneReviews: Primary Mitochondrial Disorders Overview	See labs

Genomic context

Location:: 19p13.2

Sequence:: Chromosome: 19; NC_000019.10 (10310045..10316015, complement)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FDX2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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