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Target intelligence / Profile preview
Distal membrane arm assembly component 2 (DMAC2)
- Target
- DMAC2
- Molecular classification
- Other (mitochondrial complex I assembly factor, not an enzyme, transporter, receptor, or ion channel)
01
Overview
Distal membrane arm assembly component 2 (DMAC2) is a protein involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I), specifically in the assembly of its distal region. It is localized in mitochondria and is essential for proper mitochondrial energy production. Variants in DMAC2 are associated with certain mitochondrial disorders, including mitochondrial diseases and syndromes with neurological and metabolic involvement. DMAC2 is not currently a direct therapeutic target, receptor, or enzyme, but rather functions as an assembly factor within mitochondrial complex I.
- Other names
- Distal membrane-arm assembly complex protein 2ATP synthase subunit s-like proteinATP5SLFLJ10241ATP5S likedistal membrane arm assembly complex protein 2
02
Biological functions
Mitochondrial respiratory chain complex I assemblymitochondrial energy production
03
Disease associations
Mitochondrial disease3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
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