LMNA

Lamin A/C
File:PBB Protein LMNA image.jpg PDB rendering based on 1ifr.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1ifr​, 1ivt​, 1ufg​, 1x8y​
Identifiers
Symbols	LMNA ; CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; PRO1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 41321
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
File:PBB GE LMNA 203411 s at tn.png
File:PBB GE LMNA 212086 x at tn.png
File:PBB GE LMNA 214213 x at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

LMNA is a lamin gene associated with Emery-Dreifuss muscular dystrophy.

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.

Further reading

• Gruenbaum Y, Wilson KL, Harel A; et al. (2000). "Review: nuclear lamins--structural proteins with fundamental functions". J. Struct. Biol. 129 (2–3): 313–23. doi:10.1006/jsbi.2000.4216. PMID 10806082.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Worman HJ, Courvalin JC (2000). "The inner nuclear membrane". J. Membr. Biol. 177 (1): 1–11. PMID 10960149.
• Burke B, Mounkes LC, Stewart CL (2002). "The nuclear envelope in muscular dystrophy and cardiovascular diseases". Traffic. 2 (10): 675–83. PMID 11576443.CS1 maint: Multiple names: authors list (link)
• Mounkes LC, Burke B, Stewart CL (2001). "The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases". Trends Cardiovasc. Med. 11 (7): 280–5. PMID 11709282.CS1 maint: Multiple names: authors list (link)
• Vigouroux C, Magré J, Desbois-Mouthon C; et al. (2002). "[Major insulin resistance syndromes: clinical and physiopathological aspects]". J. Soc. Biol. 195 (3): 249–57. PMID 11833462.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Helbling-Leclerc A, Bonne G, Schwartz K (2002). "Emery-Dreifuss muscular dystrophy". Eur. J. Hum. Genet. 10 (3): 157–61. doi:10.1038/sj.ejhg.5200744. PMID 11973618.CS1 maint: Multiple names: authors list (link)
• Burke B, Stewart CL (2002). "Life at the edge: the nuclear envelope and human disease". Nat. Rev. Mol. Cell Biol. 3 (8): 575–85. doi:10.1038/nrm879. PMID 12154369.
• Novelli G, D'Apice MR (2004). "The strange case of the "lumper" lamin A/C gene and human premature ageing". Trends in molecular medicine. 9 (9): 370–5. PMID 13129702.
• Pasotti M, Repetto A, Pisani A, Arbustini E (2004). "[Diseases associated with lamin A/C gene defects: what the clinical cardiologist ought to know]". Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology. 5 (2): 98–111. PMID 15080529.CS1 maint: Multiple names: authors list (link)
• Al-Shali KZ, Hegele RA (2005). "Laminopathies and atherosclerosis". Arterioscler. Thromb. Vasc. Biol. 24 (9): 1591–5. doi:10.1161/01.ATV.0000136392.59656.8b. PMID 15205220.
• Garg A, Cogulu O, Ozkinay F; et al. (2005). "A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia". J. Clin. Endocrinol. Metab. 90 (9): 5259–64. doi:10.1210/jc.2004-2560. PMID 15998779.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lees-Miller SP (2006). "Dysfunction of lamin A triggers a DNA damage response and cellular senescence". DNA Repair (Amst.). 5 (2): 286–9. doi:10.1016/j.dnarep.2005.10.007. PMID 16344005.
• Donadille B, Lascols O, Capeau J, Vigouroux C (2006). "Etiological investigations in apparent type 2 diabetes: when to search for lamin A/C mutations?". Diabetes Metab. 31 (6): 527–32. PMID 16357800.CS1 maint: Multiple names: authors list (link)
• Young SG, Meta M, Yang SH, Fong LG (2007). "Prelamin A farnesylation and progeroid syndromes". J. Biol. Chem. 281 (52): 39741–5. doi:10.1074/jbc.R600033200. PMID 17090536.CS1 maint: Multiple names: authors list (link)
• Halaschek-Wiener J, Brooks-Wilson A (2007). "Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome". J. Gerontol. A Biol. Sci. Med. Sci. 62 (1): 3–8. PMID 17301031.
• Mazereeuw-Hautier J, Wilson LC, Mohammed S; et al. (2007). "Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature". Br. J. Dermatol. 156 (6): 1308–14. doi:10.1111/j.1365-2133.2007.07897.x. PMID 17459035.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sliwińska MA (2007). "[The role of lamins and mutations of LMNA gene in physiological and premature aging]". Postepy Biochem. 53 (1): 46–52. PMID 17718387.

External links

• LMNA+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)