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Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome), also known as FGFR1, is a fibroblast growth factor receptor associated with Pfeiffer syndrome. FGFR1 has also been designated as CD331 (cluster of differentiation 331).
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.[1]
[edit] See also
[edit] References
[edit] Further reading
- Johnson DE, Williams LT (1993). "Structural and functional diversity in the FGF receptor multigene family.". Adv. Cancer Res. 60: 1–41. PMID 8417497.
- Macdonald D, Reiter A, Cross NC (2002). "The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1.". Acta Haematol. 107 (2): 101–7. PMID 11919391.
- Groth C, Lardelli M (2003). "The structure and function of vertebrate fibroblast growth factor receptor 1.". Int. J. Dev. Biol. 46 (4): 393–400. PMID 12141425.
- Wilkie AO (2005). "Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.". Cytokine Growth Factor Rev. 16 (2): 187–203. doi:10.1016/j.cytogfr.2005.03.001. PMID 15863034.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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Proteins: clusters of differentiation (see also list of human clusters of differentiation) |
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| 1-50 |
CD1 ( a-c, 1A, 1D, 1E) - CD2 - CD3 ( γ, δ, ε) - CD4 - CD5 - CD6 - CD7 - CD8 ( a) - CD9 - CD10 - CD11 ( a, b, c) - CD13 - CD14 - CD15 - CD16 ( A, B) - CD18 - CD19 - CD20 - CD21 - CD22 - CD23 - CD24 - CD25 - CD26 - CD27 - CD28 - CD29 - CD30 - CD31 - CD32 ( A, B) - CD33 - CD34 - CD35 - CD36 - CD37 - CD38 - CD39 - CD40 - CD41- CD42 ( a, b, c, d) - CD43 - CD44 - CD45 - CD46 - CD47 - CD48 - CD49 ( a, b, c, d, e, f) - CD50
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| 51-100 |
CD51 - CD52 - CD53 - CD54 - CD55 - CD56 - CD57- CD58 - CD59 - CD61 - CD62 ( E, L, P) - CD63 - CD64 - CD66 ( a, b, c, d, e, f) - CD68 - CD69 - CD70 - CD71 - CD72 - CD73 - CD74 - CD79 ( a, b) - CD80 - CD81 - CD82 - CD83 - CD84 - CD85 ( a, d, e, h, j, k) - CD86 - CD87 - CD88 - CD89 - CD90 - CD91- CD92 - CD93 - CD94 - CD95 - CD97 - CD98 - CD99 - CD100
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| 101-150 |
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| 151-200 |
CD151 - CD152 - CD153 - CD154 - CD155 - CD156 ( a, b, c) - CD157 - CD158 ( a, d, e, i, k) - CD159 ( a, c) - CD160 - CD161 - CD162 - CD163 - CD164 - CD166 - CD167 ( a, b) - CD168 - CD169 - CD170 - CD171 - CD172 ( a, b, g) - CD174 - CD177 - CD178 - CD179 ( a, b) - CD181 - CD182 - CD183 - CD184 - CD185 - CD186 - CD191 - CD192 - CD193 - CD194 - CD195 - CD196 - CD197 - CDw198 - CDw199 - CD200
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| 201-250 |
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| 251-300 |
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| 301-350 |
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