GeneID: 299



Names

Common Name: FBN2 Type: Gene
Chromosome: 5 (NC_000005.10) Locus: NG_008750.1 (FBN2)
HUGO Symbol: FBN2 Full Name: fibrillin 2
Exons: 65 Introns: 64

Description:
The encoded protein is a member of the fibrillin family and a major component of connective tissue microfibrils within the extracellular matrix. It may be involved in elastic fiber assembly. It may be involved in organ formation by regulating local TGF-β and BMP bioavailability. It is expressed in early stages of embryogensis and is primarily restricted to bone and cartilage matrices in adult tissue. Genetic variance in FBN2 gene is linked to congenital contractural arachnodactyly. Variations in this gene associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).

Synonyms: DA9

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006 PubMed
  2. Nistala H, Lee-Arteaga S, Smaldone S, Siciliano G, Carta L, Ono RN, Sengle G, Arteaga-Solis E, Levasseur R, Ducy P, Sakai LY, Karsenty G, Ramirez F, Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation., J. Cell Biol., 190(6), 1107-21, 2010 PubMed
  3. Davis MR, Summers KM, Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases., Mol. Genet. Metab., 107(4), 635-47, 2012 PubMed
  4. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2019-10-04 09:00:00, Last reviewed on (Show full history)


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