ATP5F1A Chromosome 18
ATP synthase F1 subunit alpha
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What This Gene Does
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Mitochondrial complex V: ATP synthase subunits|ATPase F1/V1 alpha/A and beta/B subunit family"
Locus Type
gene with protein product
Location
18q21.1
Ensembl
ENSG00000152234
Associated Conditions (8)
Inborn genetic diseases
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 4B
Combined oxidative phosphorylation deficiency 22
nuclear type 4A
ATP5F1A-related disorder
Mitochondrial disease
Lactic acidosis
Key Variants
RS144159915
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146467617
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148515768
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS189208584
Conflicting classifications of pathogenicity
Health Risk
RS201332560
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, Combined oxidative phosphorylation deficiency 22
Health Risk
RS2144178477
Conflicting classifications of pathogenicity
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
RS2144189607
Conflicting classifications of pathogenicity
ATP5F1A-related disorder, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Health Risk
RS2512310700
Conflicting classifications of pathogenicity
Mitochondrial disease, Inborn genetic diseases, Mitochondrial disease
Health Risk
RS563376014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760107868
Conflicting classifications of pathogenicity
Health Risk
RS760326198
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1131691396
Likely pathogenic
Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144159915 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146467617 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148515768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS189208584 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201332560 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, Combined oxidative phosphorylation deficiency 22 |
| RS2144178477 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A, Mitochondrial complex V (ATP synthase) deficiency |
| RS2144189607 | Health Risk | Conflicting classifications of pathogenicity | ATP5F1A-related disorder, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A |
| RS2512310700 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial disease, Inborn genetic diseases, Mitochondrial disease |
| RS563376014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760107868 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760326198 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1131691396 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22 |
| RS1412572728 | Health Risk | Likely pathogenic | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A, Mitochondrial complex V (ATP synthase) deficiency |
| RS587777788 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22 |
| RS1555695342 | Health Risk | Pathogenic/Likely pathogenic | Lactic acidosis, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A |