ATP5F1E Chromosome 20

ATP synthase F1 subunit epsilon
1 variant 1 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 epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Mitochondrial complex V: ATP synthase subunits
Locus Type
gene with protein product
Location
20q13.32
Ensembl
ENSG00000124172
Associated Conditions (2)
Mitochondrial complex V (ATP synthase) deficiency
nuclear type 3
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS387906929 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, Mitochondrial complex V (ATP synthase) deficiency
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