LMNA

Gene Information
 
Gene Symbol
LMNA
 
Aliases
CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1
 
Entrez Gene ID
 
Gene Name
Lamin A/C
 
Chromosomal Location
1q22
 
HGNC ID
 
Summary
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0007517 Biological process Muscle organ development IMP 10080180
GO:0005634 Cellular component Nucleus IDA 18029348
GO:0005638 Cellular component Lamin filament TAS 10080180
GO:0005652 Cellular component Nuclear lamina TAS 8344919
GO:0005737 Cellular component Cytoplasm IDA 18029348
Protein Information
 
Protein Name
HGPS , lamin A/C-like 1 , CDCD1 , LMN1 , IDC , LFP , LMNC , prelamin-A/C , OTTHUMP00000015848 , LMNL1 , CDDC , OTTHUMP00000217835 , FPL , EMD2 , OTTHUMP00000015845 , renal carcinoma antigen NY-REN-32 , LDP1 , LGMD1B , PRO1 , OTTHUMP00000015846 , CMT2B1 , limb girdle muscular dystrophy 1B (autosomal dominant) , progeria 1 (Hutchinson-Gilford type) , OTTHUMP00000015847 , OTTHUMP00000015843 , 70 kDa lamin , FPLD , CMD1A , cardiomyopathy, dilated 1A (autosomal dominant) , lamin A/C, lamin-A/C
 
Function
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Play an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics| Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00038 Filament Intermediate filament protein
PF00932 IF_tail Intermediate filament tail domain
PF00932 LTD Lamin Tail Domain
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Arrhythmia 19638735, 20092787, 12628721, 14659775, 16601451, 18926329, 17599607
Atrial fibrillation 12920062, 18339564, 19427440, 19328042
Atrophy 17136397, 10838245
Calcification 16278265
Cancer (carcinoma) 15219855, 18612243, 16179429, 19159301
   
References
 
Primary:

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

Gambineri A, Semple R K, Forlani G, Genghini S, Grassi I, Hyden C S S, Pagotto U, O'Rahilly S, Pasquali R
Division of Endocrinology, Department of Internal Medicine, S Orsola-Malpighi Hospital, University Alma Mater Studiorum, Via Massarenti 9, 40138 Bologna, Italy.
Eur J Endocrinol. 2008 Sep;159(3):347-53.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
 
Related 
25 women with FPLD who were 18 to 80 years old were interviewed regarding a history of PCOS 
Genetically confirmed FPLD have an increased risk for PCOS and ovarian cysts 
LH and FSH 
 
 
 
Related 
12 women with PCOD and 24 normal womens 
Repeat studies in four women with PCOD demonstrated a similarly abnormal gonadotropin secretory pattern in each. We conclude that 1) women with PCOD have an increase in both the amplitude and frequency of LH secretion compared to those in normally cycling women throughout the follicular phase; 2) the defect in women with PCOD is reproducible. 
 
insulin resistance 
 
 
Related 
24 women with insulin-resistant PCOS, 24 controls 
The study concludes that hypermethylation status of CpG island of LMNA gene were related to the insulin resistance in PCOS patients 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26027246
[Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia]. 
Clinical study 
24485160
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response. 
Effect of treatment 
24343626
[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. 
Clinical study 
21779653
[Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis]. 
Clinical study 

 

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