FDX2 Chromosome 19
Ferredoxin 2
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What This Gene Does
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]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Ferredoxin family"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000267673
Associated Conditions (9)
FDX2-related disorder
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Inborn mitochondrial myopathy
Mitochondrial myopathy
episodic
without optic atrophy and reversible leukoencephalopathy
with optic atrophy and reversible leukoencephalopathy
Inborn genetic diseases
Key Variants
RS142729488
Conflicting classifications of pathogenicity
FDX2-related disorder, Uterine corpus endometrial carcinoma, Colon adenocarcinoma
Health Risk
RS201352690
Conflicting classifications of pathogenicity
Health Risk
RS587777600
Conflicting classifications of pathogenicity
Inborn mitochondrial myopathy, Mitochondrial myopathy, episodic
Health Risk
RS771690392
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS888630930
Likely pathogenic
Inborn mitochondrial myopathy, Inborn mitochondrial myopathy
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142729488 | Health Risk | Conflicting classifications of pathogenicity | FDX2-related disorder, Uterine corpus endometrial carcinoma, Colon adenocarcinoma |
| RS201352690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777600 | Health Risk | Conflicting classifications of pathogenicity | Inborn mitochondrial myopathy, Mitochondrial myopathy, episodic |
| RS771690392 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS888630930 | Health Risk | Likely pathogenic | Inborn mitochondrial myopathy, Inborn mitochondrial myopathy |