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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DMAC1
distal membrane arm assembly component 1
Chromosome 9 · 9p24.1
NCBI Gene: 90871Ensembl: ENSG00000137038.9HGNC: HGNC:30536UniProt: Q96GE9
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial respiratory chain complex I assemblymitochondrial inner membranemitochondrionpoisoninghemolytic anemiaplacenta praeviaduodenitis
✦AI Summary

DMAC1 (distal membrane arm assembly component 1) is a mitochondrial inner membrane protein essential for assembling the distal region of complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the mitochondrial respiratory chain 1. Complex I comprises 45 human subunits, and DMAC1 is among the 25 accessory subunits strictly required for assembly of a functional complex 1. Proteomic analysis demonstrates that DMAC1 loss specifically impairs assembly of the distal membrane arm portion of complex I 1. DMAC1 is an N-myristoylated protein localized to mitochondria, with two conserved cysteines in a Cx2C motif that are structurally important 2. The yeast homologue Dmo2p is required for stability and maturation of Cox2p, the cytochrome c oxidase subunit harboring the copper-binding CuA center, suggesting DMAC1 may support metal incorporation during respiratory complex assembly 3. Beyond its canonical role in complex I assembly, DMAC1 shows genetic association with lean body mass, particularly in females, with high expression in skeletal muscle 4. Complex I dysfunction, in which DMAC1 participates, is implicated in mitochondrial disease, Parkinson's disease, and aging 1.

Sources cited
1
DMAC1 is required for assembly of the distal portion of complex I membrane arm; demonstrates 25 accessory subunits are strictly required for functional complex I assembly
PMID: 27626371
2
DMAC1 is an N-myristoylated protein that specifically localizes to mitochondria with conserved cysteines in Cx2C motif; functions as an assembly factor for complex I
PMID: 38151566
3
Yeast Dmo2p (DMAC1 homologue) is required for Cox2p stability and maturation; contains conserved Cx2C motif; interacts with copper incorporation machinery
PMID: 39932033
4
DMAC1 is associated with lean body mass in females through whole-genome sequencing analysis; shows high expression in skeletal muscle tissue
PMID: 40296127
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
poisoningOpen Targets
0.34Weak
hemolytic anemiaOpen Targets
0.34Weak
placenta praeviaOpen Targets
0.33Weak
duodenitisOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
HypervolemiaOpen Targets
0.30Weak
smoking initiationOpen Targets
0.30Weak
response to antibioticOpen Targets
0.30Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
dyshidrosisOpen Targets
0.29Weak
coffee consumptionOpen Targets
0.28Weak
liver diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
asthmaOpen Targets
0.26Weak
systemic lupus erythematosusOpen Targets
0.23Weak
ankylosing spondylitisOpen Targets
0.23Weak
septic shockOpen Targets
0.23Weak
cholelithiasisOpen Targets
0.22Weak
lacrimal apparatus diseaseOpen Targets
0.22Weak
adolescent idiopathic scoliosisOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM186Shared pathway100%NDUFAF3Shared pathway100%TIMMDC1Shared pathway100%NDUFAF7Shared pathway100%FOXRED1Shared pathway100%TMEM126BShared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
86%
Ovary
52%
Liver
46%
Lung
35%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
DMAC1TMEM186NDUFAF3TIMMDC1NDUFAF7FOXRED1TMEM126B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96GE9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.24 [0.79–1.84]
RankingsWhere DMAC1 stands among ~20K protein-coding genes
  • #14,407of 20,598
    Most Researched19
  • #16,794of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedDMAC1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
PMID: 27626371
Nature · 2016
1.00
2
Multi-ancestry whole genome sequencing analysis of lean body mass.
PMID: 40296127
Genome Biol · 2025
0.80
3
Saccharomyces cerevisiae Dmo2p is required for the stability and maturation of newly translated Cox2p.
PMID: 39932033
FEBS J · 2025
0.60
4
Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7.
PMID: 38151566
Sci Rep · 2023
0.40
5
Identification and functional analysis of 9p24 amplified genes in human breast cancer.
PMID: 21666724
Oncogene · 2012
0.20