ATP5PO Chromosome 21
ATP synthase peripheral stalk subunit OSCP
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What This Gene Does
The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex V: ATP synthase subunits
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000241837
Associated Conditions (8)
Severe global developmental delay
Dysphagia
Seizure
Microcephaly
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 7
Leigh syndrome
ATP5PO-related disorder
Key Variants
RS146520965
Pathogenic
Severe global developmental delay, Dysphagia, Seizure
Health Risk
RS772964701
Pathogenic
Severe global developmental delay, Dysphagia, Seizure
Health Risk
RS1987287870
Pathogenic/Likely pathogenic
Leigh syndrome, ATP5PO-related disorder, Mitochondrial complex V (ATP synthase) deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146520965 | Health Risk | Pathogenic | Severe global developmental delay, Dysphagia, Seizure |
| RS772964701 | Health Risk | Pathogenic | Severe global developmental delay, Dysphagia, Seizure |
| RS1987287870 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, ATP5PO-related disorder, Mitochondrial complex V (ATP synthase) deficiency |