HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 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.
LMNA
lamin A/C
Chromosome 1 Β· 1q22
NCBI Gene: 4000Ensembl: ENSG00000160789.25HGNC: HGNC:6636UniProt: A0A384MQX1
1,085PubMed Papers
31Diseases
0Drugs
546Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular senescencenuclear envelopestructural constituent of cytoskeletonprotein bindingdilated cardiomyopathyEmery-Dreifuss muscular dystrophy 2, autosomal dominantfamilial partial lipodystrophy, Dunnigan typeHutchinson-Gilford progeria syndrome
✦AI Summary

LMNA encodes lamin A/C proteins, which are primary components of the nuclear lamina - a proteinaceous meshwork underlying the inner nuclear membrane that is essential for proper nuclear architecture 1. The protein serves crucial roles in maintaining cellular structural stability, regulating gene expression, mechanosensing, and cellular motility 2. Lamin A/C is involved in chr1 organization, gene transcription regulation, and cellular resistance to mechanical stress 34. The protein also interacts with sirtuin 1 (SIRT1) to regulate mitochondrial function and oxidative stress 5. Mutations in LMNA cause a diverse spectrum of diseases collectively termed laminopathies, including cardiomyopathies, muscular dystrophies, lipodystrophies, and premature aging syndromes 12. LMNA-related cardiomyopathy exhibits high penetrance with early-onset phenotypes leading to heart failure and lethal arrhythmias 6. Notably, Hutchinson-Gilford Progeria Syndrome results from aberrant LMNA splicing that produces progerin, a truncated mutant protein causing severe premature aging 17. Clinical significance is substantial as these conditions are resistant to conventional therapies, creating major unmet medical needs, though gene therapy approaches show promise 6.

Sources cited
1
LMNA products are key components of nuclear lamina essential for nuclear architecture and cause laminopathies including HGPS
PMID: 27374873
2
LMNA serves crucial roles in cellular structural stability, gene expression regulation, mechanosensing and motility
PMID: 39422026
3
Lamin A/C is involved in chromatin structure, gene transcription regulation, and cellular mechanical stress resistance
PMID: 24440603
4
LMNA regulates nuclear mechanostability, chromatin organization, and gene transcription
PMID: 36899919
5
Lamin A interacts with SIRT1 to regulate mitochondrial function and oxidative stress
PMID: 39143095
6
LMNA-related cardiomyopathy exhibits high penetrance, early-onset phenotypes, and resistance to conventional therapies
PMID: 39827909
7
HGPS is caused by LMNA point mutation creating progerin through aberrant splicing
PMID: 22030750
Disease Associationsβ“˜31
dilated cardiomyopathyOpen Targets
0.86Strong
Emery-Dreifuss muscular dystrophy 2, autosomal dominantOpen Targets
0.85Strong
familial partial lipodystrophy, Dunnigan typeOpen Targets
0.84Strong
Hutchinson-Gilford progeria syndromeOpen Targets
0.83Strong
congenital muscular dystrophy due to LMNA mutationOpen Targets
0.81Strong
mandibuloacral dysplasia with type A lipodystrophyOpen Targets
0.81Strong
Charcot-Marie-Tooth disease type 2B1Open Targets
0.79Strong
dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeOpen Targets
0.79Strong
dilated cardiomyopathy 1AOpen Targets
0.78Strong
Emery-Dreifuss muscular dystrophyOpen Targets
0.78Strong
heart-hand syndrome, Slovenian typeOpen Targets
0.77Strong
Lethal restrictive dermopathyOpen Targets
0.73Strong
Dilated cardiomyopathy - hypergonadotropic hypogonadismOpen Targets
0.71Strong
Autosomal dominant limb-girdle muscular dystrophy type 1BOpen Targets
0.71Strong
Familial dilated cardiomyopathy with conduction defect due to LMNA mutationOpen Targets
0.70Moderate
restrictive dermopathy 2Open Targets
0.69Moderate
mandibuloacral dysplasiaOpen Targets
0.67Moderate
limb-girdle muscular dystrophyOpen Targets
0.66Moderate
congenital muscular dystrophyOpen Targets
0.65Moderate
restrictive dermopathy 1Open Targets
0.65Moderate
Cardiomyopathy, dilated, 1AUniProt
Cardiomyopathy, dilated, with hypergonadotropic hypogonadismUniProt
Charcot-Marie-Tooth disease, axonal, type 2B1UniProt
Emery-Dreifuss muscular dystrophy 2, autosomal dominantUniProt
Emery-Dreifuss muscular dystrophy 3, autosomal recessiveUniProt
Heart-hand syndrome Slovenian typeUniProt
Hutchinson-Gilford progeria syndromeUniProt
Lipodystrophy, familial partial, 2UniProt
Mandibuloacral dysplasia with type A lipodystrophyUniProt
Muscular dystrophy congenital LMNA-relatedUniProt
Restrictive dermopathy 2UniProt
Pathogenic Variants546
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)Pathogenic
Primary dilated cardiomyopathy|not provided|Dilated cardiomyopathy 1A|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|Cardiomyopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 471
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)Pathogenic
not provided|Dilated cardiomyopathy 1S|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Primary dilated cardiomyopathy|LMNA-related disorder|Dilated cardiomyopathy 1A|7 conditions
β˜…β˜…β˜†β˜†2026β†’ Residue 190
NM_170707.4(LMNA):c.74G>A (p.Arg25His)Likely pathogenic
Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
β˜…β˜…β˜†β˜†2026β†’ Residue 25
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)Pathogenic
not provided|Cardiovascular phenotype|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A
β˜…β˜…β˜†β˜†2026β†’ Residue 190
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)Pathogenic
Emery-Dreifuss muscular dystrophy 2, autosomal dominant|not provided|Muscular dystrophy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Abnormality of the musculature|Congenital muscular dystrophy due to LMNA mutation|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 453
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 528
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2B1|Cardiovascular phenotype|Dilated cardiomyopathy 1A;Emery-Dreifuss muscular dystrophy 2, autosomal dominant;Congenital muscular dystrophy due to LMNA mutation|Cardiomyopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 377
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)Pathogenic
not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Dilated cardiomyopathy 1A|Hutchinson-Gilford syndrome|LMNA-related disorder|Congenital muscular dystrophy|Emery-Dreifuss muscular dystrophy 2, autosomal dominant
β˜…β˜…β˜†β˜†2026β†’ Residue 541
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)Pathogenic
Dilated cardiomyopathy 1A|not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Long QT syndrome|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 161
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)Pathogenic
not provided|Muscular dystrophy|Charcot-Marie-Tooth disease type 2
β˜…β˜…β˜†β˜†2026β†’ Residue 361
NM_170707.4(LMNA):c.1526dup (p.Thr510fs)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 510
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)Pathogenic
Primary dilated cardiomyopathy|not provided|Cardiovascular phenotype|Charcot-Marie-Tooth disease type 2|11 conditions|Primary familial dilated cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1A
β˜…β˜…β˜†β˜†2025β†’ Residue 321
NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Neuronopathy, distal hereditary motor, autosomal dominant
β˜…β˜…β˜†β˜†2025β†’ Residue 353
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)Pathogenic
Dilated cardiomyopathy 1A|not provided|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Cardiomyopathy|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_170707.4(LMNA):c.768G>A (p.Val256=)Pathogenic
not provided|Primary dilated cardiomyopathy|Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A|Cardiovascular phenotype|11 conditions
β˜…β˜…β˜†β˜†2025β†’ Residue 256
NM_170707.4(LMNA):c.811-2A>GPathogenic
Charcot-Marie-Tooth disease type 2|Dilated cardiomyopathy 1A
β˜…β˜…β˜†β˜†2025
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)Pathogenic
not provided|Dilated cardiomyopathy 1A|Charcot-Marie-Tooth disease type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 467
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)Pathogenic
Familial partial lipodystrophy, Dunnigan type|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|Familial partial lipodystrophy|Cardiovascular phenotype|11 conditions|LMNA-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 482
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|not specified|Cardiomyopathy|Primary familial dilated cardiomyopathy|Cardiovascular phenotype|Dilated cardiomyopathy 1A|LMNA-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 317
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)Pathogenic
Primary dilated cardiomyopathy|not provided|Charcot-Marie-Tooth disease type 2|Cardiovascular phenotype|Heart-hand syndrome, Slovenian type|Arrhythmogenic right ventricular cardiomyopathy|Left ventricular noncompaction|Laminopathy;Primary dilated cardiomyopathy|Dilated cardiomyopathy 1A|Cardiomyopathy|11 conditions|Primary familial dilated cardiomyopathy|LMNA-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 335
View on ClinVar β†—
Related Genes
NUP98Protein interaction100%CASP6Protein interaction100%EMDProtein interaction100%LBRProtein interaction100%NUP153Protein interaction100%MAP2K1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
92%
Heart
63%
Bone Marrow
53%
Liver
47%
Brain
18%
Gene Interaction Network
Click a node to explore
LMNANUP98CASP6EMDLBRNUP153MAP2K1
PROTEIN STRUCTURE
Preparing viewer…
PDB7WZZ Β· 1.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.20–0.41]
RankingsWhere LMNA stands among ~20K protein-coding genes
  • #143of 20,598
    Most Researched1,085 Β· top 1%
  • #94of 5,498
    Most Pathogenic Variants546 Β· top 5%
  • #2,125of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedLMNA
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Identification of pathogenic gene mutations in
PMID: 28679633
Proc Natl Acad Sci U S A Β· 2017
1.00
2
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
PMID: 39827909
J Adv Res Β· 2025
0.90
3
Precise gene editing of pathogenic Lamin A mutations corrects cardiac disease.
PMID: 41082656
Proc Natl Acad Sci U S A Β· 2025
0.88
4
Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.
PMID: 27374873
Ageing Res Rev Β· 2017
0.80
5
Human longevity and common variations in the LMNA gene: a meta-analysis.
PMID: 22340368
Aging Cell Β· 2012
0.80