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Cytochrome c oxidase subunit 7A2-like, mitochondrial (COX7A2L)
- Target
- COX7A2L
- Molecular classification
- Enzyme (mitochondrial respiratory chain component), Assembly factor (respiratory chain supercomplex organization), Other (nuclear-encoded mitochondrial protein)
01
Overview
Cytochrome c oxidase subunit 7A2-like, mitochondrial (COX7A2L), also known as supercomplex assembly factor 1 (SCAF1), is a nuclear-encoded protein found in mitochondria. It acts primarily as an assembly factor rather than a catalytic subunit and is crucial for stabilizing specific mitochondrial respiratory supercomplexes, especially those containing complexes III and IV. This stabilization enhances mitochondrial oxidative phosphorylation efficiency and supports cellular adaptation to varying metabolic and oxygen conditions. Variants in the COX7A2L gene influence metabolic fitness and energy usage in skeletal muscle, with evidence linking its expression to improved cardiorespiratory fitness. COX7A2L is implicated in certain mitochondrial disorders and may be relevant in cancer metabolism and cardiovascular health. No direct pharmacological modulators or safety issues are currently described for COX7A2L[5][1][3][2][6].
- Other names
- COX7A2LCOX7ARCOX7RPEB1SCAF1SCAFISIG81Cytochrome c oxidase subunit 7A2 likeCytochrome c oxidase subunit 7A-related proteinCytochrome c oxidase subunit VIIa-related proteinSupercomplex assembly factor 1Estrogen receptor binding CpG island
02
Biological functions
Stabilization of mitochondrial respiratory chain supercomplexesPromotion of oxidative phosphorylation and energy metabolismAdaptation to oxygen conditions/metabolic stress
03
Disease associations
Mitochondrial myopathyEnergy metabolism disorders/respiratory chain deficiencies (COX deficiency)Potential link to cancer cell metabolism (upregulation after estrogen treatment; role in metabolic rewiring)Cardiovascular disease/cardiorespiratory fitness (indirectly)
04
Biomarkers
Potential biomarker for mitochondrial supercomplex assembly state and metabolic adaptationGenetic variants associated with metabolic fitness and muscle oxygen consumption
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