ATPAF2 Chromosome 17
ATP synthase mitochondrial F1 complex assembly factor 2
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What This Gene Does
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000171953
Associated Conditions (2)
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 1
Key Variants
RS1008083351
Conflicting classifications of pathogenicity
Health Risk
RS141020107
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS141827488
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS142604577
Conflicting classifications of pathogenicity
Health Risk
RS144484457
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS147941728
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS148095363
Conflicting classifications of pathogenicity
Health Risk
RS34738009
Conflicting classifications of pathogenicity
Health Risk
RS371136012
Conflicting classifications of pathogenicity
Health Risk
RS746446116
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS776986750
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS863223910
Conflicting classifications of pathogenicity
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008083351 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141020107 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS141827488 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS142604577 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144484457 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS147941728 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS148095363 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34738009 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371136012 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746446116 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS776986750 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |
| RS863223910 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2044747934 | Health Risk | Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Mitochondrial complex V (ATP synthase) deficiency |