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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MMD
monocyte to macrophage differentiation associated
Chromosome 17 · 17q22
NCBI Gene: 23531Ensembl: ENSG00000108960.10HGNC: HGNC:7153UniProt: Q15546
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein kinase activityprotein bindingregulation of protein localizationpositive regulation of neuron differentiationmale reproductive system diseasespondyloarthropathycancerneoplasm
✦AI Summary

MMD encodes a Golgi-resident scaffold protein that plays critical roles in lipid metabolism and cellular death pathways. The protein physically interacts with ACSL4 and MBOAT7 enzymes to promote polyunsaturated phosphatidylinositol remodeling, specifically increasing the incorporation of arachidonic acid into phosphatidylinositol lipids 1. This metabolic function renders cells more susceptible to ferroptosis, a form of regulated cell death characterized by iron-catalyzed lipid peroxidation 1. Recent multi-omic analyses have revealed significant disruption of ferroptosis pathways in Moyamoya disease patients, suggesting a potential connection between MMD dysfunction and this cerebrovascular disorder 2. The protein appears to function by targeting large intracellular structures and may have roles in antimicrobial responses, though much remains unknown about its complete cellular functions 3. While the gene name suggests involvement in monocyte-to-macrophage differentiation, the current evidence primarily supports its role in lipid metabolism regulation and ferroptosis susceptibility, with potential clinical relevance in cerebrovascular diseases.

Sources cited
1
MMD physically interacts with ACSL4 and MBOAT7 to promote arachidonic acid incorporation into phosphatidylinositol and increases ferroptosis susceptibility
PMID: 37691145
2
Ferroptosis pathways are significantly disrupted in Moyamoya disease patients, suggesting connection to MMD dysfunction
PMID: 40301939
3
MMD protein targets large intracellular structures and may have antimicrobial functions, though much remains unknown about its complete cellular roles
PMID: 38378744
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
male reproductive system diseaseOpen Targets
0.32Weak
spondyloarthropathyOpen Targets
0.12Weak
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.04Suggestive
Kimura diseaseOpen Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
autoimmune lymphoproliferative syndromeOpen Targets
0.04Suggestive
autoimmune lymphoproliferative syndrome type 1Open Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
immunodeficiency 64Open Targets
0.04Suggestive
Felty's syndromeOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.04Suggestive
immunodeficiency 105Open Targets
0.04Suggestive
activated PI3K-delta syndromeOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
autoimmune lymphoproliferative syndrome type 2AOpen Targets
0.04Suggestive
osteoarthritisOpen Targets
0.04Suggestive
hyper-IgM syndrome type 5Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PAQR3Protein interaction76%MMD2Shared pathway75%TRIM67Shared pathway33%RABGAP1LShared pathway33%TCF4Shared pathway33%PCP4Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
91%
Lung
40%
Liver
34%
Heart
31%
Ovary
13%
Gene Interaction Network
Click a node to explore
MMDPAQR3MMD2TRIM67RABGAP1LTCF4PCP4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15546
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.60–1.29]
RankingsWhere MMD stands among ~20K protein-coding genes
  • #15,056of 20,598
    Most Researched17
  • #13,592of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedMMD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Enhancing Understanding of Moral Distress: The Measure of Moral Distress for Health Care Professionals.
PMID: 31002584
AJOB Empir Bioeth · 2019
1.00
2
Moyamoya disease emerging as an immune-related angiopathy.
PMID: 36115805
Trends Mol Med · 2022
0.90
3
Adult Moyamoya Disease and Moyamoya Syndrome: What Is New?
PMID: 39043157
Cerebrovasc Dis Extra · 2024
0.80
4
Moyamoya Disease.
PMID: 27960175
Front Neurol Neurosci · 2016
0.70
5
MMD collaborates with ACSL4 and MBOAT7 to promote polyunsaturated phosphatidylinositol remodeling and susceptibility to ferroptosis.
PMID: 37691145
Cell Rep · 2023
0.60