merosin

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laminin

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/11 08:31:06」(JST)

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LAMA2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YEP, 4YEQ
Identifiers
Aliases	LAMA2, LAMM, Laminin, alpha 2, laminin subunit alpha 2
External IDs	MGI: 99912 HomoloGene: 37306 GeneCards: 3908
Genetically Related Diseases
Disease Name		References
amyotrophic lateral sclerosis		[1]
refractive error		[2]
Gene ontology Molecular function • structural molecule activity • receptor binding Cellular component • extracellular region • proteinaceous extracellular matrix • dendritic spine • sarcolemma • extracellular matrix • basal lamina • extracellular exosome • basement membrane Biological process • myelination in peripheral nervous system • muscle organ development • regulation of cell migration • positive regulation of synaptic transmission, cholinergic • regulation of embryonic development • regulation of cell adhesion • extracellular matrix organization • axon guidance • cell adhesion Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3908	16773
Ensembl	ENSG00000196569	ENSMUSG00000019899
UniProt	P24043	Q60675
RefSeq (mRNA)	NM_000426 NM_001079823	NM_008481
RefSeq (protein)	NP_000417.2 NP_001073291.1	NP_032507.2
Location (UCSC)	Chr 6: 128.88 – 129.52 Mb	Chr 10: 26.98 – 27.62 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human		View/Edit Mouse

Laminin subunit alpha-2 is a protein that in humans is encoded by the LAMA2 gene.

Function

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene.

References

Further reading

• Timpl R (1997). "Macromolecular organization of basement membranes". Curr. Opin. Cell Biol. 8 (5): 618–24. doi:10.1016/S0955-0674(96)80102-5. PMID 8939648. 
• Belkin AM, Stepp MA (2000). "Integrins as receptors for laminins". Microsc. Res. Tech. 51 (3): 280–301. doi:10.1002/1097-0029(20001101)51:3<280::AID-JEMT7>3.0.CO;2-O. PMID 11054877. 
• Jones KJ, Morgan G, Johnston H, et al. (2002). "The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review". J. Med. Genet. 38 (10): 649–57. doi:10.1136/jmg.38.10.649. PMC 1734735. PMID 11584042. 
• Hori H, Kanamori T, Mizuta T, et al. (1995). "Human laminin M chain: epitope analysis of its monoclonal antibodies by immunoscreening of cDNA clones and tissue expression". J. Biochem. 116 (6): 1212–9. PMID 7535762. 
• Helbling-Leclerc A, Zhang X, Topaloglu H, et al. (1995). "Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy". Nat. Genet. 11 (2): 216–8. doi:10.1038/ng1095-216. PMID 7550355. 
• Yamada H, Shimizu T, Tanaka T, et al. (1994). "Dystroglycan is a binding protein of laminin and merosin in peripheral nerve". FEBS Lett. 352 (1): 49–53. doi:10.1016/0014-5793(94)00917-1. PMID 7925941. 
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Zhang X, Vuolteenaho R, Tryggvason K (1996). "Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy". J. Biol. Chem. 271 (44): 27664–9. doi:10.1074/jbc.271.44.27664. PMID 8910357. 
• Squarzoni S, Villanova M, Sabatelli P, et al. (1997). "Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects". Neuromuscul. Disord. 7 (2): 91–8. doi:10.1016/S0960-8966(96)00420-8. PMID 9131649. 
• Allamand V, Sunada Y, Salih MA, et al. (1997). "Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain". Hum. Mol. Genet. 6 (5): 747–52. doi:10.1093/hmg/6.5.747. PMID 9158149. 
• Durkin ME, Loechel F, Mattei MG, et al. (1997). "Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation". FEBS Lett. 411 (2–3): 296–300. doi:10.1016/S0014-5793(97)00686-8. PMID 9271224. 
• Mrowiec T, Melchar C, Górski A (1998). "HIV-protein-mediated alterations in T cell interactions with the extracellular matrix proteins and endothelium". Arch. Immunol. Ther. Exp. (Warsz.) 45 (2–3): 255–9. PMID 9597096. 
• Koch M, Olson PF, Albus A, et al. (1999). "Characterization and Expression of the Laminin γ3 Chain: A Novel, Non-Basement Membrane–associated, Laminin Chain". J. Cell Biol. 145 (3): 605–18. doi:10.1083/jcb.145.3.605. PMC 2185082. PMID 10225960. 
• Kuang W, Xu H, Vilquin JT, Engvall E (2000). "Activation of the lama2 gene in muscle regeneration: abortive regeneration in laminin alpha2-deficiency". Lab. Invest. 79 (12): 1601–13. PMID 10616210. 
• Pegoraro E, Fanin M, Trevisan CP, et al. (2000). "A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy". Neurology 55 (8): 1128–34. doi:10.1212/wnl.55.8.1128. PMID 11071490. 
• McArthur CP, Wang Y, Heruth D, Gustafson S (2001). "Amplification of extracellular matrix and oncogenes in tat-transfected human salivary gland cell lines with expression of laminin, fibronectin, collagens I, III, IV, c-myc and p53". Arch. Oral Biol. 46 (6): 545–55. doi:10.1016/S0003-9969(01)00014-0. PMID 11311202. 

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• LOVD mutation database: LAMA2

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
• 2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 3. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
• 4. 乳児血管腫：疫学、発症機序、臨床的特徴、合併症 infantile hemangiomas epidemiology pathogenesis clinical features and complications
• 5. アレキサンダー病 alexander disease

English Journal

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• Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2016;1307:61-9. doi: 10.1007/7651_2014_82.
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• PMID 24875248

• Bacterial secretion of soluble and functional trivalent scFv-based N-terminal trimerbodies.

• Blanco-Toribio A1, Álvarez-Cienfuegos A, Sainz-Pastor N, Merino N, Compte M, Sanz L, Blanco FJ, Álvarez-Vallina L.
• AMB Express.AMB Express.2015 Dec;5(1):137. doi: 10.1186/s13568-015-0137-0. Epub 2015 Aug 4.
• Recombinant antibodies are used with great success in many different diagnostic and therapeutic applications. A variety of protein expression systems are available, but nowadays almost all therapeutic antibodies are produced in mammalian cell lines due to their complex structure and glycosylation re
• PMID 26239030

• PLGA/alginate composite microspheres for hydrophilic protein delivery.

• Zhai P1, Chen XB2, Schreyer DJ3.
• Materials science & engineering. C, Materials for biological applications.Mater Sci Eng C Mater Biol Appl.2015 Nov 1;56:251-9. doi: 10.1016/j.msec.2015.06.015. Epub 2015 Jun 11.
• Poly(lactic-co-glycolic acid) (PLGA) microspheres and PLGA/alginate composite microspheres were prepared by a novel double emulsion and solvent evaporation technique and loaded with bovine serum albumin (BSA) or rabbit anti-laminin antibody protein. The addition of alginate and the use of a surfacta
• PMID 26249587

Japanese Journal

• Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy

• FUJII Yuji,SUGIURA Chitose,FUKUDA Chisako,MAEGAKI Yoshihiro,OHNO Kousaku
• Brain & development 33(2), 140-144, 2011-02-01
• NAID 10029560577

• Merosin-deficient congenital muscular dystrophy in Korea

• CHAE Jong-Hee,LEE Jin Sook,HWANG Hee,KIM Ki Joong,HWANG Yong Seung,PARK June Dong,CHEON Jung-Eun,KIM In-One,CHOE Ghee Young,PARK Sung Hye
• Brain & development 31(5), 341-346, 2009-05-01
• NAID 10025579706

• MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency : Metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter

• SIJENS P. E.,FOCK J. M.,MEINERS L. C.,POTZE J. H.,IRWAN R.,OUDKERK M.
• Brain & development 29(5), 317-321, 2007-06-01
• NAID 10024135972

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