Lamin A/C (LMNA)

CDCD1; CMD1A; CMT2B1; EMD2; FPL; FPLD; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; PRO1; Cardiomyopathy Dilated 1A; Limb Girdle Muscular Dystrophy 1B; Progeria 1

SPN	R247
HGNC	6636
MGI	96794
PubMed	23666920
RGD	620456
UniProt	P02545
Wiki	LMNA

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.

Lamin A is targeted to the nuclear membrane by an isoprenyl group but it is cleaved shortly after arriving at the membrane. It stays associated with the membrane through protein-protein interactions of itself and other membrane associated proteins, such as LAP1. Depolymerization of the nuclear lamins leads to disintegration of the nuclear envelope. Transfection experiments demonstrate that phosphorylation of human lamin A is required for lamin depolymerization, and thus for disassembly of the nuclear envelope, which normally occurs early in mitosis.

Reference

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, Submitted (OCT-2009) to UniProtKB

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J. Biol. Chem. 274:30008-30018(1999) [PubMed] [Europe PMC] [Abstract]

"Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein."
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Nature 423:293-298(2003) [PubMed] [Europe PMC] [Abstract]

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J. Cell Biol. 182:35-39(2008) [PubMed] [Europe PMC] [Abstract]

"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Emerin-prelamin A interplay in human fibroblasts."
Biol. Cell 101:541-554(2009) [PubMed] [Europe PMC] [Abstract]

"The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress."
J. Cell. Mol. Med. 13:959-971(2009) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Increased plasticity of the nuclear envelope and hypermobility of telomeres due to the loss of A-type lamins."
Biochim. Biophys. Acta 1800:448-458(2010) [PubMed] [Europe PMC] [Abstract]

"Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy."
Circ. Cardiovasc. Genet. 3:6-14(2010) [PubMed] [Europe PMC] [Abstract]

"Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging."
Circulation 121:2200-2210(2010) [PubMed] [Europe PMC] [Abstract]

"Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes."
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel muscle enriched A-type Lamin interacting protein (MLIP)."
J. Biol. Chem. 286:19702-19713(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24."
PLoS ONE 7:E32120-E32120(2012) [PubMed] [Europe PMC] [Abstract]

"LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset."
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]

"Depleting the methyltransferase Suv39h1 improves DNA repair and extends lifespan in a progeria mouse model."
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"Structure of the globular tail of nuclear lamin."
J. Biol. Chem. 277:17381-17384(2002) [PubMed] [Europe PMC] [Abstract]

"The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy."
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Nat. Genet. 21:285-288(1999) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease."
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"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C."
Am. J. Hum. Genet. 66:1192-1198(2000) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 67:775-775(2000)

"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy."
Am. J. Hum. Genet. 66:1407-1412(2000) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene."
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"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy."
Hum. Mol. Genet. 9:109-112(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)."
Hum. Mol. Genet. 9:1453-1459(2000) [PubMed] [Europe PMC] [Abstract]

"LMNA, encoding lamin A/C, is mutated in partial lipodystrophy."
Nat. Genet. 24:153-156(2000) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene."
Neurology 55:275-280(2000) [PubMed] [Europe PMC] [Abstract]

"Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy."
Am. J. Med. Genet. 102:359-367(2001) [PubMed] [Europe PMC] [Abstract]

"Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease."
J. Card. Fail. 7:249-256(2001) [PubMed] [Europe PMC] [Abstract]

"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block."
Neuromuscul. Disord. 11:542-546(2001) [PubMed] [Europe PMC] [Abstract]

"A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation."
Am. Heart J. 144:1081-1086(2002) [PubMed] [Europe PMC] [Abstract]

"Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."
Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 70:1075-1075(2002)

"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C."
Am. J. Hum. Genet. 71:426-431(2002) [PubMed] [Europe PMC] [Abstract]

"Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene."
Am. J. Med. 112:549-555(2002) [PubMed] [Europe PMC] [Abstract]

"Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease."
J. Am. Coll. Cardiol. 39:981-990(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]

"Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy."
Neurology 59:620-623(2002) [PubMed] [Europe PMC] [Abstract]

"Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation."
Eur. J. Heart Fail. 5:821-825(2003) [PubMed] [Europe PMC] [Abstract]

"Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype."
Hum. Mutat. 21:473-481(2003) [PubMed] [Europe PMC] [Abstract]

"Natural history of dilated cardiomyopathy due to lamin A/C gene mutations."
J. Am. Coll. Cardiol. 41:771-780(2003) [PubMed] [Europe PMC] [Abstract]

Erratum
J. Am. Coll. Cardiol. 42:590-590(2003)

"A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy."
J. Clin. Endocrinol. Metab. 88:1006-1013(2003) [PubMed] [Europe PMC] [Abstract]

"LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)."
J. Hum. Genet. 48:271-274(2003) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations."
J. Med. Genet. 40:560-567(2003) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]

"LMNA mutations in atypical Werner's syndrome."
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study."
Stroke 34:901-908(2003) [PubMed] [Europe PMC] [Abstract]

"Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations."
Am. J. Cardiol. 94:50-54(2004) [PubMed] [Europe PMC] [Abstract]

"A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy."
Eur. Heart J. 25:885-893(2004) [PubMed] [Europe PMC] [Abstract]

"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy."
Hum. Mol. Genet. 13:2493-2503(2004) [PubMed] [Europe PMC] [Abstract]

"Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes."
J. Med. Genet. 41:304-308(2004) [PubMed] [Europe PMC] [Abstract]

"Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome."
J. Med. Genet. 41:609-614(2004) [PubMed] [Europe PMC] [Abstract]

"A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia."
J. Med. Genet. 41:E29-E29(2004) [PubMed] [Europe PMC] [Abstract]

"p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria."
Ann. Neurol. 57:148-151(2005) [PubMed] [Europe PMC] [Abstract]

"Gene symbol: LMNA. Disease: cardiomyopathy, dilated, with conduction defect 1."
Hum. Genet. 117:298-298(2005) [PubMed] [Europe PMC] [Abstract]

"A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia."
J. Clin. Endocrinol. Metab. 90:5259-5264(2005) [PubMed] [Europe PMC] [Abstract]

"Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]

"A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features."
J. Clin. Endocrinol. Metab. 91:517-521(2006) [PubMed] [Europe PMC] [Abstract]

"Collagen expression in fibroblasts with a novel LMNA mutation."
Biochem. Biophys. Res. Commun. 352:603-608(2007) [PubMed] [Europe PMC] [Abstract]

"Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)."
Clin. Genet. 71:183-186(2007) [PubMed] [Europe PMC] [Abstract]

"Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy."
Neurogenetics 8:137-142(2007) [PubMed] [Europe PMC] [Abstract]

"New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome."
J. Clin. Endocrinol. Metab. 92:4835-4844(2007) [PubMed] [Europe PMC] [Abstract]

"De novo LMNA mutations cause a new form of congenital muscular dystrophy."
Ann. Neurol. 64:177-186(2008) [PubMed] [Europe PMC] [Abstract]

"Heart-hand syndrome of Slovenian type: a new kind of laminopathy."
J. Med. Genet. 45:666-671(2008) [PubMed] [Europe PMC] [Abstract]

"Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation."
Am. J. Med. Genet. A 149:567-572(2009) [PubMed] [Europe PMC] [Abstract]

"Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation."
Am. J. Cardiol. 103:1426-1428(2009) [PubMed] [Europe PMC] [Abstract]

"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]

"LMNA mutation in progeroid syndrome in association with strokes."
Eur. J. Med. Genet. 54:E576-E579(2011) [PubMed] [Europe PMC] [Abstract]

"Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations."
Hum. Mutat. 32:152-167(2011) [PubMed] [Europe PMC] [Abstract]

"High prevalence of laminopathies among patients with metabolic syndrome."
Hum. Mol. Genet. 20:3779-3786(2011) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."
Muscle Nerve 45:605-610(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations."
PLoS ONE 8:E71850-E71850(2013) [PubMed] [Europe PMC] [Abstract]

"LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response."
Diabetes Metab. 40:224-228(2014) [PubMed] [Europe PMC] [Abstract]