LMNA

LMNA
	Structure de la protéine LMNA. Basé sur l'identifiant PDB 1iFR.
Structures disponibles
PDB	Recherche d'orthologue : PDBe RCSB
Identifiants PDB
	1IFR, 1IVT, 1X8Y, 2XV5, 2YPT, 3GEF, 3V4Q, 3V4W, 3V5B
Identifiants
Alias	LMNA
IDs externes	OMIM: 150330 MGI: 96794 HomoloGene: 41321 GeneCards: LMNA
Position du gène (humain)
Chr.	Chromosome 1 humain
Fin	156,140,081 bp
Position du gène (souris)
Chr.	Chromosome 3 (souris)
Fin	88,417,263 bp
Expression génique
	Fortement exprimé dans
	mamelon; ; muqueuse gastrique; ; skin of abdomen; ; tendon of biceps brachii; ; vésicule biliaire; ; skin of leg; ; Descending thoracic aorta; ; stromal cell of endometrium; ; tendon calcanéen; ; left uterine tube;
	Fortement exprimé dans
	aorte ascendante; ; valve aortique; ; artère carotide externe; ; artère carotide interne; ; endothelial cell of lymphatic vessel; ; lèvre; ; condyle; ; skin of back; ; skin of external ear; ; lactiferous gland;
	Plus de données d'expression de référence
	; ; ; ;
	Plus de données d'expression de référence
Gene Ontology
Fonction moléculaire	structural molecule activity; liaison protéique; identical protein binding;
Composant cellulaire	Lamina; cytosol; nuclear speck; lamin filament; perinuclear region of cytoplasm; filament intermédiaire; noyau; matrice extracellulaire; membrane nucléaire; nucléoplasme; enveloppe nucléaire;
Processus biologique	regulation of cell migration; organisation d'un noyau; establishment or maintenance of microtubule cytoskeleton polarity; negative regulation of release of cytochrome c from mitochondria; negative regulation of extrinsic apoptotic signaling pathway; muscle organ development; regulation of protein localization to nucleus; IRE1-mediated unfolded protein response; mitotic nuclear membrane disassembly; protein localization to nucleus; mitotic nuclear membrane reassembly; ventricular cardiac muscle cell development; cellular response to hypoxia; positive regulation of gene expression; negative regulation of mesenchymal cell proliferation; organisation de l'enveloppe nucléaire; negative regulation of cell population proliferation; regulation of telomere maintenance; negative regulation of cardiac muscle hypertrophy in response to stress; protein import into nucleus; regulation of protein stability; positive regulation of histone H3-K9 trimethylation;
	Sources:Amigo / QuickGO
Orthologues
	4000
	16905
	ENSG00000160789
	ENSMUSG00000028063
	P02545
	P48678
NM_001257374; NM_001282624; NM_001282625; NM_001282626; NM_005572;
	NM_170707; NM_170708
	NM_001002011; NM_001111102; NM_019390
NP_001244303; NP_001269553; NP_001269554; NP_001269555; NP_005563;
	NP_733821; NP_733822
	NP_001002011; NP_001104572; NP_062263
	Wikidata
Voir/Editer Humain	Voir/Editer Souris

LMNA est un gène situé sur le chromosome 1 humain. Il permet la synthèse des lamines A et C par épissage alternatif.

En médecine

Les mutations de ce gènes sont impliquées dans plusieurs maladies, appelées laminopathies :

cardiomyopathie dilatée se caractérisant par des troubles conductif, des arythmies ventriculaires, une survenue chez l'adulte jeune, un recours plus fréquent à une transplantation cardiaque ;
dystrophie musculaire d'Emery-Dreifuss ;
lipodystrophie familiale partielle ;
dystrophie musculaire des ceintures ;
progéria.

Certaines maladies sont proches et la distinction entre ces syndromes n'est pas toujours nette, avec des manifestations pouvant recouvrir plusieurs de ces atteintes.

Notes et références

1 2 3 GRCh38: Ensembl release 89: ENSG00000160789 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028063 - Ensembl, May 2017
↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
↑ Fatkin D, MacRae C, Sasaki T et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease, N Engl J Med, 1999;341:1715–1724
↑ Hasselberg NE, Haland TF, Saberniak J et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantations, Eur Heart J, 2018;39:853–860
↑ Kayvanpour E, Sedaghat-Hamedani F, Amr A et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals, Clin Res Cardiol, 2017;106:127–139
↑ Bonne G, Di Barletta MR, Varnous S et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy, Nat Genet, 1999;21:285–288.
↑ Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet, 2000;24:153–156
↑ Genschel J, Schmidt HH, Mutations in the LMNA gene encoding lamin A/C, Hum Mutat, 2000;16:451–459
↑ Broers JL, Ramaekers FC, Bonne G, Yaou RB, Hutchison CJ, Nuclear lamins: laminopathies and their role in premature ageing, Physiol Rev, 2006;86:967–1008
↑ Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A, A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, 2016;209:317–318

Portail de la biologie cellulaire et moléculaire

Portail de la médecine

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000160789 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028063 - Ensembl, May 2017

[3] « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[4] « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine

[Fatkin_1999-5] Fatkin D, MacRae C, Sasaki T et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease, N Engl J Med, 1999;341:1715–1724

[Hasselberg_2018-6] Hasselberg NE, Haland TF, Saberniak J et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantations, Eur Heart J, 2018;39:853–860

[Kayvanpour_2017-7] Kayvanpour E, Sedaghat-Hamedani F, Amr A et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals, Clin Res Cardiol, 2017;106:127–139

[Bonne_1999-8] Bonne G, Di Barletta MR, Varnous S et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy, Nat Genet, 1999;21:285–288.

[Shackleton_2000-9] Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet, 2000;24:153–156

[Genschel_2000-10] Genschel J, Schmidt HH, Mutations in the LMNA gene encoding lamin A/C, Hum Mutat, 2000;16:451–459

[Broers_2006-11] Broers JL, Ramaekers FC, Bonne G, Yaou RB, Hutchison CJ, Nuclear lamins: laminopathies and their role in premature ageing, Physiol Rev, 2006;86:967–1008

[Ambrosi_2016-12] Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A, A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, 2016;209:317–318