FGFR1

(redirected from KAL2)
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FGFR1

A gene on chromosome 8p12 that encodes fibroblast growth factor receptor-1, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR1 mutations are associated with inherited syndromes (e.g., Antley-Bixler syndrome, autosomal dominant Kallmann syndrome 2, Jackson-Weiss syndrome, osteoglophonic dysplasia and Pfeiffer syndrome), as well as myeloproliferative disorders and stem cell leukaemia lymphoma syndrome.
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References in periodicals archive ?
[Mean.sub.c(j,k)] = A0 + jAL1 + kAL2 + D0 + jDL1 + kDL2 + jkHQ12
[Mean.sub.rm(j,k)] = A0 + jAL1 + kAL2 + D0 + jDL1 + kDL2 + [j.sup.2]/4 DQ1 + [k.sup.2]/4 DQ2 + jk/2 HQ12
[Mean.sub.s(j,k)] = A0 + jAL1 + kAL2 + 1/2 D0 + j/2 DL1 + k/2 DL2 + jk/2 HQ12