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Aliases for LMNA Gene

Aliases for LMNA Gene

  • Lamin A/C 2 3 5
  • Mandibuloacral Dysplasia Type A 2 3
  • Lamin A/C-Like 1 2 3
  • LMN1 3 4
  • Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) 2
  • Cardiomyopathy, Dilated 1A (Autosomal Dominant) 2
  • Progeria 1 (Hutchinson-Gilford Type) 2
  • Renal Carcinoma Antigen NY-REN-32 3
  • 70 KDa Lamin 3
  • Prelamin-A/C 3
  • CMT2B1 3
  • LGMD1B 3
  • CDCD1 3
  • FPLD2 3
  • Lamin 3
  • CMD1A 3
  • LMNL1 3
  • MADA 3
  • CDDC 3
  • EMD2 3
  • FPLD 3
  • HGPS 3
  • LDP1 3
  • LMNC 3
  • PRO1 3
  • FPL 3
  • IDC 3
  • LFP 3

External Ids for LMNA Gene

Previous HGNC Symbols for LMNA Gene

  • LMN1
  • CMD1A
  • LGMD1B
  • PRO1
  • LMNL1

Previous GeneCards Identifiers for LMNA Gene

  • GC01P153921
  • GC01P151817
  • GC01P152830
  • GC01P153301
  • GC01P152897
  • GC01P154318
  • GC01P156053
  • GC01P127446

Summaries for LMNA Gene

Entrez Gene Summary for LMNA Gene

  • 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. Alternative splicing results in multiple transcript variants. 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, Apr 2012]

GeneCards Summary for LMNA Gene

LMNA (Lamin A/C) is a Protein Coding gene. Diseases associated with LMNA include Hutchinson-Gilford Progeria and Muscular Dystrophy, Limb-Girdle, Type 1B. Among its related pathways are Mitotic Prophase and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MIR7108.

UniProtKB/Swiss-Prot for LMNA Gene

  • 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. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone.

  • 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.

Gene Wiki entry for LMNA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMNA Gene

Genomics for LMNA Gene

Regulatory Elements for LMNA Gene

Enhancers for LMNA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F156099 2 VISTA FANTOM5 ENCODE 33 +21.6 21620 8.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS LMNA MEX3A LAMTOR2 UBQLN4 KIAA0907 RXFP4 FAM189B RIT1 YY1AP1 MEF2D
GH01F156111 1.6 FANTOM5 ENCODE 27 +38.8 38844 19.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 KIAA0907 MSTO2P ENSG00000271267 RRNAD1 LMNA ASH1L LOC246784 PEAR1 MEX3A DPM3
GH01F155937 1.8 FANTOM5 Ensembl ENCODE 10.4 -139.3 -139327 10.9 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 LOC101928120 RIT1 KIAA0907 ASH1L ARHGEF2 LOC107985210 SNORA80E UBQLN4 LAMTOR2 MSTO2P
GH01F156145 1.5 FANTOM5 ENCODE 11.8 +66.8 66808 7.7 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC25A44 ENSG00000252236 LMNA MEX3A BGLAP PAQR6 TSACC CCT3 SMG5 ARHGEF2
GH01F156000 1.3 Ensembl ENCODE 11.3 -80.1 -80068 3.6 HDGF CREB3L1 ARID4B SIN3A ZNF121 ZNF207 FOS KDM4B ZNF263 JUNB RIT1 RXFP4 KIAA0907 UBQLN4 LAMTOR2 SCARNA4 MEX3A LMNA SNORA80E GLMP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMNA on UCSC Golden Path with GeneCards custom track

Promoters for LMNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000545676 -546 4001 PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF143 KLF13 ZNF263 SP3 SP5

Genomic Location for LMNA Gene

Chromosome:
1
Start:
156,082,546 bp from pter
End:
156,140,089 bp from pter
Size:
57,544 bases
Orientation:
Plus strand

Genomic View for LMNA Gene

Genes around LMNA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNA Gene

Proteins for LMNA Gene

  • Protein details for LMNA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02545-LMNA_HUMAN
    Recommended name:
    Prelamin-A/C
    Protein Accession:
    P02545
    Secondary Accessions:
    • B4DI32
    • D3DVB0
    • D6RAQ3
    • E7EUI9
    • P02546
    • Q5I6Y4
    • Q5I6Y6
    • Q5TCJ2
    • Q5TCJ3
    • Q6UYC3
    • Q969I8
    • Q96JA2

    Protein attributes for LMNA Gene

    Size:
    664 amino acids
    Molecular mass:
    74139 Da
    Quaternary structure:
    • Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 and with emerin. Interacts with SREBF1, SREBF2, SUN2 and TMEM43 (By similarity). Proteolytically processed isoform A interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP; may regulate MLIP localization to the nucleus envelope. Interacts with DMPK; may regulate nuclear envelope stability. Interacts with SUV39H1; the interaction increases stability of SUV39H1. Interacts with SYNE2.
    Miscellaneous:
    • The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.
    • There are three types of lamins in human cells: A, B, and C.
    SequenceCaution:
    • Sequence=CAA27173.1; Type=Frameshift; Positions=582; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMNA Gene

    Alternative splice isoforms for LMNA Gene

neXtProt entry for LMNA Gene

Post-translational modifications for LMNA Gene

  • Farnesylation of prelamin-A/C facilitates nuclear envelope targeting.
  • Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.
  • Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the last three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15 C-terminal amino acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage.
  • Sumoylation is necessary for the localization to the nuclear envelope.
  • Ubiquitination at Lys 78, Lys 144, Lys 171, Lys 181, Lys 201, Lys 208, Lys 265, Lys 311, and Lys 486
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LMNA (lamin A/C)

No data available for DME Specific Peptides for LMNA Gene

Domains & Families for LMNA Gene

Gene Families for LMNA Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P02545

UniProtKB/Swiss-Prot:

LMNA_HUMAN :
  • Contains 1 LTD domain.
  • Belongs to the intermediate filament family.
Domain:
  • Contains 1 LTD domain.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNA: view

Function for LMNA Gene

Molecular function for LMNA Gene

GENATLAS Biochemistry:
lamin,types A and C,common gene,alternatively spliced isoforms
UniProtKB/Swiss-Prot 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. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone.
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 10514485
genes like me logo Genes that share ontologies with LMNA: view
genes like me logo Genes that share phenotypes with LMNA: view

Human Phenotype Ontology for LMNA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNA Gene

MGI Knock Outs for LMNA:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMNA Gene

Localization for LMNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNA Gene

Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C.
Isoform C: Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMNA gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16791210
GO:0005635 nuclear envelope IEA,TAS --
GO:0005638 lamin filament IEA --
GO:0005652 nuclear lamina IEA --
GO:0005654 nucleoplasm IEA,TAS --
genes like me logo Genes that share ontologies with LMNA: view

Pathways & Interactions for LMNA Gene

genes like me logo Genes that share pathways with LMNA: view

SIGNOR curated interactions for LMNA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for LMNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization IEA --
GO:0006998 nuclear envelope organization IEA --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0010628 positive regulation of gene expression IEA --
genes like me logo Genes that share ontologies with LMNA: view

Drugs & Compounds for LMNA Gene

(13) Drugs for LMNA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for LMNA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNA: view

Transcripts for LMNA Gene

Unigene Clusters for LMNA Gene

Lamin A/C:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMNA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for LMNA Gene

GeneLoc Exon Structure for
LMNA
ECgene alternative splicing isoforms for
LMNA

Expression for LMNA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMNA Gene

Protein differential expression in normal tissues from HIPED for LMNA Gene

This gene is overexpressed in Bone marrow stromal cell (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LMNA Gene



Protein tissue co-expression partners for LMNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMNA Gene:

LMNA

SOURCE GeneReport for Unigene cluster for LMNA Gene:

Hs.594444

mRNA Expression by UniProt/SwissProt for LMNA Gene:

P02545-LMNA_HUMAN
Tissue specificity: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress.
genes like me logo Genes that share expression patterns with LMNA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for LMNA Gene

Orthologs for LMNA Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMNA 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia LMNA 34 35
  • 92.67 (n)
cow
(Bos Taurus)
Mammalia LMNA 34 35
  • 92.55 (n)
oppossum
(Monodelphis domestica)
Mammalia LMNA 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMNA 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmna 34 16 35
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Lmna 34
  • 83.59 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 67 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lmna 34
  • 72.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia lmna-A 34
zebrafish
(Danio rerio)
Actinopterygii lmna 34 35
  • 66.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008015 34
  • 51.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lam 36 35
  • 37 (a)
LamC 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea lmn-1 36 35
  • 30 (a)
ifb-1 36
  • 29 (a)
ifa-2 36
  • 27 (a)
ifa-4 36
  • 27 (a)
ifb-2 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8283 35
  • 34 (a)
OneToMany
Species where no ortholog for LMNA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMNA Gene

ENSEMBL:
Gene Tree for LMNA (if available)
TreeFam:
Gene Tree for LMNA (if available)

Paralogs for LMNA Gene

Paralogs for LMNA Gene

(5) SIMAP similar genes for LMNA Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with LMNA: view

Variants for LMNA Gene

Sequence variations from dbSNP and Humsavar for LMNA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11575937 Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660], Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660], Pathogenic 156,136,985(+) TTACC(A/G/T)GTTCC nc-transcript-variant, reference, missense
rs121912495 Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205], Pathogenic 156,136,103(+) GCTCT(C/T)GGAGG nc-transcript-variant, reference, missense
rs121912496 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350], Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205], Pathogenic 156,134,910(+) AACTG(C/G/T)GGGCC nc-transcript-variant, reference, synonymous-codon, missense
rs13768 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350], untested 156,138,660(+) CACTC(A/G/T)CAGCT intron-variant, nc-transcript-variant, reference, missense
rs142000963 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350], Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670], Likely pathogenic 156,138,719(+) TCACC(A/C/T)GCTCC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for LMNA Gene

Variant ID Type Subtype PubMed ID
esv3428000 CNV duplication 20981092
nsv1078975 CNV deletion 25765185
nsv1142784 CNV deletion 24896259
nsv509513 CNV insertion 20534489
nsv824831 CNV gain 20364138

Variation tolerance for LMNA Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMNA Gene

Human Gene Mutation Database (HGMD)
LMNA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMNA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMNA Gene

Disorders for LMNA Gene

MalaCards: The human disease database

(79) MalaCards diseases for LMNA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hutchinson-gilford progeria
  • hutchinson-gilford progeria syndrome
muscular dystrophy, limb-girdle, type 1b
  • autosomal dominant limb-girdle muscular dystrophy type 1b
muscular dystrophy, congenital
  • muscular dystrophy, congenital, lmna-related
emery-dreifuss muscular dystrophy 2, ad
  • autosomal dominant emery-dreifuss muscular dystrophy
emery-dreifuss muscular dystrophy 3, ar
  • emery-dreifuss muscular dystrophy 3, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search LMNA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMNA_HUMAN
  • Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10580070, ECO:0000269 PubMed:11561226, ECO:0000269 PubMed:11897440, ECO:0000269 PubMed:12486434, ECO:0000269 PubMed:12628721, ECO:0000269 PubMed:12920062, ECO:0000269 PubMed:14684700, ECO:0000269 PubMed:15140538, ECO:0000269 PubMed:15219508, ECO:0000269 PubMed:16061563, ECO:0000269 PubMed:20160190, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112]: A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. {ECO:0000269 PubMed:12927431, ECO:0000269 PubMed:17150192, ECO:0000269 PubMed:19283854}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11799477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:10080180, ECO:0000269 PubMed:10739764, ECO:0000269 PubMed:10908904, ECO:0000269 PubMed:10939567, ECO:0000269 PubMed:11503164, ECO:0000269 PubMed:12032588, ECO:0000269 PubMed:12467752, ECO:0000269 PubMed:12649505, ECO:0000269 PubMed:14684700, ECO:0000269 PubMed:14985400, ECO:0000269 PubMed:15744034, ECO:0000269 PubMed:20848652}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:22431096, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM:610140]: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. {ECO:0000269 PubMed:18611980}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]: Rare genetic disorder characterized by features reminiscent of marked premature aging. {ECO:0000269 PubMed:12714972, ECO:0000269 PubMed:12768443, ECO:0000269 PubMed:12927431, ECO:0000269 PubMed:15060110, ECO:0000269 PubMed:15286156, ECO:0000269 PubMed:15622532, ECO:0000269 PubMed:21791255, ECO:0000269 PubMed:22355414, ECO:0000269 PubMed:23666920}. Note=The disease is caused by mutations affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972). {ECO:0000269 PubMed:12714972}.
  • Lethal tight skin contracture syndrome (LTSCS) [MIM:275210]: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. {ECO:0000269 PubMed:15317753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001]: An autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes. {ECO:0000269 PubMed:10814726, ECO:0000269 PubMed:11525883, ECO:0000269 PubMed:12032588, ECO:0000269 PubMed:12673789, ECO:0000269 PubMed:15744034, ECO:0000269 PubMed:17136397, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol. {ECO:0000269 PubMed:10587585, ECO:0000269 PubMed:10655060, ECO:0000269 PubMed:10739751, ECO:0000269 PubMed:12015247, ECO:0000269 PubMed:12196663, ECO:0000269 PubMed:12629077, ECO:0000269 PubMed:17250669, ECO:0000269 PubMed:24485160}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. {ECO:0000269 PubMed:12075506, ECO:0000269 PubMed:15998779, ECO:0000269 PubMed:16278265}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. {ECO:0000269 PubMed:18551513}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in LMNA may cause a late-onset cardiocutaneous progeria syndrome characterized by cutaneous manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction, prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade. {ECO:0000269 PubMed:23666920}.

Relevant External Links for LMNA

Genetic Association Database (GAD)
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Human Genome Epidemiology (HuGE) Navigator
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Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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genes like me logo Genes that share disorders with LMNA: view

No data available for Genatlas for LMNA Gene

Publications for LMNA Gene

  1. Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation. (PMID: 19427440) Brauch K.M. … Olson T.M. (Am. J. Cardiol. 2009) 3 4 22 46 64
  2. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. (PMID: 15219508) Hermida-Prieto M. … Crespo-Leiro M. (Am. J. Cardiol. 2004) 3 4 22 46 64
  3. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. (PMID: 12920062) Sebillon P. … Komajda M. (J. Med. Genet. 2003) 3 4 22 46 64
  4. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. (PMID: 19318026) Millat G. … Rousson R. (Clin. Biochem. 2009) 3 22 46 64
  5. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. (PMID: 19283854) McPherson E. … Giampietro P.F. (Am. J. Med. Genet. A 2009) 3 4 22 64

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