ATP5F1B Chromosome 12

ATP synthase F1 subunit beta
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 beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial complex V: ATP synthase subunits|Small nucleolar RNA protein coding host genes|ATPase F1/V1 alpha/A and beta/B subunit family"
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000110955
Associated Conditions (2)
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
Hypermetabolism due to Defect in Mitochondrial Coupling
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2547807758 Health Risk Pathogenic Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, Hypermetabolism due to Defect in Mitochondrial Coupling, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
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