four and a half LIM domains 1
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L FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) and in the heart (cardiac muscle). The full-length isoform is known as FHL1A, or sometimes just FHL1. The other two isoforms, which are shorter, are called FHL1B and FHL1C.
Normal function
L FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) and in the heart (cardiac muscle). The full-length isoform is known as FHL1A, or sometimes just FHL1. The other two isoforms, which are shorter, are called FHL1B and FHL1C.
FHL1A is the best-studied of the three FHL1 isoforms. Studies suggest that interactions between FHL1A and other proteins play a critical role in the assembly of sarcomeres, which are structures within muscle cells that are necessary for muscle tensing (contraction). These interactions also appear to be involved in chemical signaling within muscle cells, maintaining the structure of these cells, and influencing muscle growth and size.
Less is known about the FHL1B and FHL1C isoforms. FHL1B moves in and out of the nucleus and is also part of the nuclear envelope, which is a structure that surrounds the nucleus in cells. The protein's function in this structure is unknown. FHL1B and FHL1C are suspected to play roles in the normal structure and function of skeletal and cardiac muscles.
Conditions referring to this gene or chromosome
Altri nomi
bA535K18.1
FHL-1
FHL1A
FHL1B
FLH1A
four-and-a-half Lin11, Isl-1 and Mec-3 domains 1
KYO-T
KYOT
LIM protein SLIMMER
MGC111107
RBMX1A
RBMX1B
skeletal muscle LIM-protein 1
SLIM
SLIM-1
SLIM1
SLIMMER
XMPMA
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Ulteriori letture e riferimenti
- four and a half LIM domains 1; MedlinePlus, National Library of Medicine.
- Bertrand AT, Bonnemann CG, Bonne G; FHL1 myopathy consortium. 199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands. Neuromuscul Disord. 2014 May;24(5):453-62. doi: 10.1016/j.nmd.2014.02.002. Epub 2014 Feb 14. No abstract available.
- Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011 Apr;21(4):237-51. doi: 10.1016/j.nmd.2011.01.001.
- Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27.
- Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.
- Schessl J, Feldkirchner S, Kubny C, Schoser B. Reducing body myopathy and other FHL1-related muscular disorders. Semin Pediatr Neurol. 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007.
- Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bonnemann CG. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29.
- Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008 Dec;18(12):959-61. doi: 10.1016/j.nmd.2008.09.012. Epub 2008 Oct 25.
- Wilding BR, McGrath MJ, Bonne G, Mitchell CA. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation. J Cell Sci. 2014 May 15;127(Pt 10):2269-81. doi: 10.1242/jcs.140905. Epub 2014 Mar 14.
- Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Loscher WN, Wagner K, Lochmuller H, Vincent JB, Quasthoff S. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.
- Ziat E, Mamchaoui K, Beuvin M, Nelson I, Azibani F, Spuler S, Bonne G, Bertrand AT. FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. J Neuromuscul Dis. 2016 Nov 29;3(4):497-510. doi: 10.3233/JND-160169.
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