SDHAF1 Chromosome 19
Succinate dehydrogenase complex assembly factor 1
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What This Gene Does
The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"LYR motif containing|Mitochondrial respiratory chain complex assembly factors"
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000205138
Associated Conditions (5)
Mitochondrial complex II deficiency
nuclear type 1
Inborn genetic diseases
Mitochondrial complex 2 deficiency
nuclear type 2
Key Variants
RS144661239
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency
Health Risk
RS754546603
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS78119534
Conflicting classifications of pathogenicity
Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency
Health Risk
RS1085307492
Likely pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS2514019854
Likely pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS137853192
Pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS137853193
Pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS1397859218
Pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS1976655209
Pathogenic
Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency
Health Risk
RS768768823
Pathogenic/Likely pathogenic
Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex 2 deficiency
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144661239 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency |
| RS754546603 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex II deficiency, nuclear type 1, Inborn genetic diseases |
| RS78119534 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex II deficiency |
| RS1085307492 | Health Risk | Likely pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS2514019854 | Health Risk | Likely pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS137853192 | Health Risk | Pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS137853193 | Health Risk | Pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS1397859218 | Health Risk | Pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS1976655209 | Health Risk | Pathogenic | Mitochondrial complex 2 deficiency, nuclear type 2, Mitochondrial complex 2 deficiency |
| RS768768823 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex II deficiency, nuclear type 1, Mitochondrial complex 2 deficiency |