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.
Biological Context
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]
Product Specifications
Recombinant Human Fibroblast growth factor 4 (FGF4), partial (Active) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 54-206aa, with Tag-Free tag, molecular weight 16.9 kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Growth Factor proteins →
