LMNA

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 It has been suggested that this article or section be merged with Lamin A. (Discuss)


Lamin A/C
Image:PBB Protein LMNA image.jpg
PDB rendering based on 1ifr.
Available structures: 1ifr, 1ivt, 1ufg, 1x8y
Identifiers
Symbol(s) LMNA; CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; PRO1
External IDs OMIM: 150330 MGI: 96794 Homologene: 41321
RNA expression pattern

Image:PBB GE LMNA 203411 s at tn.png

Image:PBB GE LMNA 212086 x at tn.png

Image:PBB GE LMNA 214213 x at tn.png

More reference expression data

Orthologs
Human Mouse
Entrez 4000 16905
Ensembl ENSG00000160789 ENSMUSG00000028063
Uniprot P02545 Q3U7I5
Refseq NM_005572 (mRNA)
NP_005563 (protein) 		NM_001002011 (mRNA)
NP_001002011 (protein)
Location Chr 1: 154.32 - 154.38 Mb Chr 3: 88.57 - 88.59 Mb
Pubmed search [1] [2]

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.[1]


References

  1. ↑ Entrez Gene: LMNA lamin A/C.


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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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

 This biochemistry article is a stub. You can help WikiDoc by expanding it.
v • d • e
Proteins of the cytoskeleton
MicrofilamentsActins - Actin-binding proteins - Actinin - Arp2/3 complex - Cofilin - Destrin - Gelsolin - Myosins - Profilin - Tropomodulin - Troponin (T, C, I) - Tropomyosin - Wiskott-Aldrich syndrome protein
Intermediate filamentstype 1 and 2 (Cytokeratin, type I, type II) - type 3 (Desmin, GFAP, Peripherin, Vimentin) - type 4 (Internexin, Nestin, Neurofilament, Synemin, Syncoilin) - type 5 (Lamin A, B)
MicrotubulesDyneins - Kinesins - MAPs (Tau protein, Dynamin) - Tubulins - Stathmin - Tektin
CateninsAlpha catenin - Beta catenin - Plakoglobin (gamma catenin) - Delta catenin
NonhumanMajor sperm proteins - Prokaryotic cytoskeleton (Crescentin, FtsZ, MreB)
OtherAPC - Dystrophin (Dystroglycan) - plakin (Desmoplakin, Plectin) - Spectrin - Talin - Utrophin - Vinculin

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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