fibroblast growth factor receptor 1
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The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This protein is one of four fibroblast growth factor receptors, which are a family of proteins that are involved in processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development.
Normal function
The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This protein is one of four fibroblast growth factor receptors, which are a family of proteins that are involved in processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development.
The FGFR1 protein spans the cell membrane, so that one end of the protein is inside the cell and the other end sticks out from the outer surface of the cell. This positioning allows the FGFR1 protein to interact with other proteins called fibroblast growth factors (FGFs) outside the cell and to receive signals that help the cell respond to its environment. When an FGF attaches to the FGFR1 protein on the outside of the cell, it starts a series of chemical reactions inside the cell that tell the cell to undergo certain changes or to learn new functions. This signaling is thought to play an important role in the development and growth of several parts of the body, including the brain, the bones in the head and face (craniofacial bones), the bones in the hands and feet, and the long bones in the arms and legs.
The FGFR1 protein plays a critical role in the formation, survival, and movement (migration) of nerve cells (neurons) in several areas of in the brain. In particular, the signals passed through this protein appear to be essential for neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the ovaries and testes. FGFR1 also appears to play a role in the processing of smells by a specialized group of neurons (olfactory neurons).
Conditions referring to this gene or chromosome
Other names
BFGFR
C-FGR
CD331
CEK
FGFR1_HUMAN
fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
FLG
FLJ14326
FLT2
FMS-like gene
FMS-like tyrosine kinase 2
heparin-binding growth factor receptor 1
hydroxyaryl-protein kinase
KAL2
N-SAM tyrosine kinase
protein-tyrosine kinase
tyrosyl protein kinase
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Leitura adicional e referências
- fibroblast growth factor receptor 1; MedlinePlus, National Library of Medicine.
- Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1334/
- Bennett JT, Tan TY, Alcantara D, Tetrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium; Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.
- Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
- Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10.
- Elbauomy Elsheikh S, Green AR, Lambros MB, Turner NC, Grainge MJ, Powe D, Ellis IO, Reis-Filho JS. FGFR1 amplification in breast carcinomas: a chromogenic in situ hybridisation analysis. Breast Cancer Res. 2007;9(2):R23. doi: 10.1186/bcr1665.
- Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. Am J Med Genet A. 2006 Mar 1;140(5):537-9. doi: 10.1002/ajmg.a.31106. No abstract available.
- Florenzano P, Gafni RI, Collins MT. Tumor-induced osteomalacia. Bone Rep. 2017 Sep 20;7:90-97. doi: 10.1016/j.bonr.2017.09.002. eCollection 2017 Dec.
- Jiang T, Gao G, Fan G, Li M, Zhou C. FGFR1 amplification in lung squamous cell carcinoma: a systematic review with meta-analysis. Lung Cancer. 2015 Jan;87(1):1-7. doi: 10.1016/j.lungcan.2014.11.009. Epub 2014 Nov 20.
- Kim SH, Hu Y, Cadman S, Bouloux P. Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. J Neuroendocrinol. 2008 Feb;20(2):141-63. doi: 10.1111/j.1365-2826.2007.01627.x. Epub 2007 Nov 22.
- Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol. 2002;107(2):101-7. doi: 10.1159/000046639.
- Othman AA, Babcock HE, Ferreira CR. Osteoglophonic Dysplasia. 2024 Apr 18. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK602944/
- Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA, Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6281-6. doi: 10.1073/pnas.0600962103. Epub 2006 Apr 10.
- Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.
- Villanueva C, de Roux N. FGFR1 mutations in Kallmann syndrome. Front Horm Res. 2010;39:51-61. doi: 10.1159/000312693. Epub 2010 Apr 8.
- White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7. doi: 10.1086/427956. Epub 2004 Dec 28.
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