filamin B
עודכן לאחרונה 11 אפריל 2023
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ה FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.
Normal function
ה FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.
Filamin B is involved in the development of the skeleton before birth. It is active (expressed) in many cells and tissues of the body, including cartilage-forming cells called chondrocytes. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage.
Conditions referring to this gene or chromosome
Other names
ABP-278
ABP-280 homolog
actin binding protein 278
actin-binding-like protein
beta-filamin
FH1
filamin B, beta
filamin homolog 1
filamin-3
filamin-B
FLN-B
FLN1L
FLNB_HUMAN
LRS1
TABP
TAP
thyroid autoantigen
truncated ABP
truncated actin-binding protein
קריאה נוספת והפניות
- filamin B; MedlinePlus, National Library of Medicine.
- Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007 Feb;44(2):89-98. doi: 10.1136/jmg.2006.043687. Epub 2006 Jun 26.
- Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005 Jul;42(7):e43. doi: 10.1136/jmg.2004.029967.
- Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348.
- Isidor B, Cormier-Daire V, Le Merrer M, Lefrancois T, Hamel A, Le Caignec C, David A, Jacquemont S. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. Am J Med Genet A. 2008 Jun 15;146A(12):1593-7. doi: 10.1002/ajmg.a.32217.
- Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.
- Li GH, Kung AW, Huang QY. Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. Osteoporos Int. 2010 Jun;21(6):1009-20. doi: 10.1007/s00198-009-1043-6. Epub 2009 Sep 1.
- Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul 31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009. Epub 2009 Jun 6.
- Wilson SG, Jones MR, Mullin BH, Dick IM, Richards JB, Pastinen TM, Grundberg E, Ljunggren O, Surdulescu GL, Dudbridge F, Elliott KS, Cervino AC, Spector TD, Prince RL. Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. J Bone Miner Res. 2009 Dec;24(12):1989-97. doi: 10.1359/jbmr.090530.
- Yang CF, Wang CH, Siong H'ng W, Chang CP, Lin WD, Chen YT, Wu JY, Tsai FJ. Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186. Epub 2017 Feb 27.
- Zhang D, Herring JA, Swaney SS, McClendon TB, Gao X, Browne RH, Rathjen KE, Johnston CE, Harris S, Cain NM, Wise CA. Mutations responsible for Larsen syndrome cluster in the FLNB protein. J Med Genet. 2006 May;43(5):e24. doi: 10.1136/jmg.2005.038695.
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