ATP5F1D Chromosome 19

ATP synthase F1 subunit delta
5 variants 5 Health Risk

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What This Gene Does
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing 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 delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex V: ATP synthase subunits
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000099624
Associated Conditions (6)
ATP5F1D-related disorder
Inborn genetic diseases
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 5
Mitochondrial disease
Decreased activity of mitochondrial ATP synthase complex
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS372801460 Health Risk Conflicting classifications of pathogenicity ATP5F1D-related disorder, Inborn genetic diseases, ATP5F1D-related disorder
RS531544101 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5, ATP5F1D-related disorder
RS778164774 Health Risk Conflicting classifications of pathogenicity
RS1555745989 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
RS867410737 Health Risk Pathogenic Decreased activity of mitochondrial ATP synthase complex, Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
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