Recombinant Human Fibroblast growth factor 4 protein (FGF4), partial (Active)

Function

Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells (By similarity)

Subcellular Location

Secreted

Disease Association

Short-rib thoracic dysplasia 22 without polydactyly (SRTD22) : A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD22 is a form characterized by short ribs, abnormally narrow chest, and respiratory insufficiency, without other diagnostic clinical or radiological signs. [The disease may be caused by variants affecting the gene represented in this entry]

Subunit

Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors

• Mayshar Y. et al. Fibroblast growth factor 4 and its novel splice isoform have opposing effects on the maintenance of human embryonic stem cell self-renewal. — Stem Cells (2008)
• Yoshida T. et al. Genomic sequence of hst, a transforming gene encoding a protein homologous to fibroblast growth factors and the int-2-encoded protein. — Proc. Natl. Acad. Sci. U.S.A. (1987)
• Taira M. et al. cDNA sequence of human transforming gene hst and identification of the coding sequence required for transforming activity. — Proc. Natl. Acad. Sci. U.S.A. (1987)
• Delli-Bovi P. et al. An oncogene isolated by transfection of Kaposi's sarcoma DNA encodes a growth factor that is a member of the FGF family. — Cell (1987)
• Ornitz D.M. et al. Receptor specificity of the fibroblast growth factor family. — J. Biol. Chem. (1996)
• Turner N. et al. Fibroblast growth factor signalling: from development to cancer. — Nat. Rev. Cancer (2010)
• Bellosta P. et al. Identification of receptor and heparin binding sites in fibroblast growth factor 4 by structure-based mutagenesis. — Mol. Cell. Biol. (2001)
• Watts L.M. et al. Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency. — Clin. Genet. (2025)