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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DYM
dymeclin
Chromosome 18 Β· 18q21.1
NCBI Gene: 54808Ensembl: ENSG00000141627.14HGNC: HGNC:21317UniProt: A0A6Q8PF81
44PubMed Papers
22Diseases
0Drugs
54Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingenzyme bindingGolgi organizationbone developmentDyggve-Melchior-Clausen diseaseSmith-McCort dysplasia 1Smith-McCort dysplasiagenetic disorder
✦AI Summary

DYM (dymeclin) is a protein essential for proper organization of the Golgi apparatus and bone development. The gene encodes a cytoplasmic protein involved in maintaining Golgi structure through protein-protein interactions and enzyme binding activities. Mutations in DYM cause rare skeletal dysplasias, specifically Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 1, which are characterized by progressive skeletal abnormalities reflecting the protein's critical role in bone formation. Recently, DYM was identified as a common genetic locus associated with Alzheimer's disease risk in a large multi-ancestry genome-wide association study 1. This novel association suggests DYM may have broader neurobiological functions beyond its known role in skeletal development and Golgi organization. The mechanistic link between DYM dysfunction and Alzheimer's disease pathogenesis remains to be elucidated. Understanding DYM's cellular functions in both skeletal tissues and the nervous system may provide insights into the pathophysiology of both skeletal dysplasias and neurodegenerative disease.

Sources cited
1
DYM identified as a novel common locus associated with Alzheimer's disease in multi-ancestry genome-wide association study
PMID: 39998322
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
Dyggve-Melchior-Clausen diseaseOpen Targets
0.80Strong
Smith-McCort dysplasia 1Open Targets
0.76Strong
Smith-McCort dysplasiaOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.41Moderate
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1Open Targets
0.37Weak
Lethal encephalopathy due to mitochondrial and peroxisomal fission defectOpen Targets
0.37Weak
osteoarthritis, kneeOpen Targets
0.30Weak
total knee arthroplastyOpen Targets
0.30Weak
age-related macular degenerationOpen Targets
0.27Weak
pleural empyemaOpen Targets
0.27Weak
pneumothoraxOpen Targets
0.27Weak
aneurysmOpen Targets
0.25Weak
nutritional deficiency diseaseOpen Targets
0.25Weak
paralytic strabismusOpen Targets
0.24Weak
tuberculosisOpen Targets
0.23Weak
tympanic membrane perforationOpen Targets
0.23Weak
Alzheimer diseaseOpen Targets
0.23Weak
renal osteodystrophyOpen Targets
0.22Weak
endocarditisOpen Targets
0.17Weak
connective tissue diseaseOpen Targets
0.15Weak
Dyggve-Melchior-Clausen syndromeUniProt
Smith-McCort dysplasia 1UniProt
Pathogenic Variants54
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided|Dyggve-Melchior-Clausen syndrome;Smith-McCort dysplasia 1|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 132
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|Early-onset non-syndromic cataract
β˜…β˜…β˜†β˜†2025β†’ Residue 306
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 70
NM_001353214.3(DYM):c.2043del (p.Lys681fs)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 681
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 428
NM_001353214.3(DYM):c.122del (p.Phe41fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 41
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 204
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 588
NM_001353214.3(DYM):c.947-2A>GPathogenic
Dyggve-Melchior-Clausen syndrome|DYM-related disorder
β˜…β˜…β˜†β˜†2023
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter)Pathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 20
NM_001353214.3(DYM):c.1728+2T>CPathogenic
Dyggve-Melchior-Clausen syndrome
β˜…β˜…β˜†β˜†2022
NM_001353214.3(DYM):c.107T>G (p.Leu36Arg)Likely pathogenic
Smith-McCort dysplasia 1
β˜…β˜†β˜†β˜†2025β†’ Residue 36
NM_001353214.3(DYM):c.780dup (p.Phe261fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 261
NM_001353214.3(DYM):c.312_313dup (p.Asn105fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 105
NM_001353214.3(DYM):c.1152T>A (p.Tyr384Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 384
NM_001353214.3(DYM):c.836del (p.Pro279fs)Pathogenic
Dyggve-Melchior-Clausen syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 279
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter)Pathogenic
Dyggve-Melchior-Clausen syndrome|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 16
NM_001353214.3(DYM):c.368del (p.Glu123fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 123
NM_001353214.3(DYM):c.1911+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001353214.3(DYM):c.2025+1G>APathogenic
not provided|Dyggve-Melchior-Clausen syndrome
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
PAPSS2Protein interaction93%GOLGA8RShared pathway50%GOLGA8HShared pathway50%GOLGA8OShared pathway50%GOLGA8QShared pathway50%GOLGA8MShared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
80%
Ovary
79%
Lung
55%
Bone Marrow
50%
Liver
34%
Gene Interaction Network
Click a node to explore
DYMPAPSS2GOLGA8RGOLGA8HGOLGA8OGOLGA8QGOLGA8M
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7RTS9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.73–1.08]
RankingsWhere DYM stands among ~20K protein-coding genes
  • #9,585of 20,598
    Most Researched44
  • #1,269of 5,498
    Most Pathogenic Variants54 Β· top quartile
  • #10,981of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedDYM
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pathophysiology of atopic dermatitis: Clinical implications.
PMID: 30819278
Allergy Asthma Proc Β· 2019
1.00
2
Omalizumab for the Treatment of Multiple Food Allergies.
PMID: 38407394
N Engl J Med Β· 2024
0.90
3
Diagnosis and Treatment Approaches to a "Gummy Smile".
PMID: 32111273
Dent Clin North Am Β· 2020
0.80
4
Update on Maxillary Sinus Augmentation.
PMID: 33213709
Dent Clin North Am Β· 2021
0.70
5
Pharmacologic Treatment for Temporomandibular and Temporomandibular Joint Disorders.
PMID: 34598856
Oral Maxillofac Surg Clin North Am Β· 2022
0.60