FGF8

FGF8 or Fibroblast Growth Factor 8 is a protein that in humans is encoded by the FGF8 gene. It is a member of the fibroblast growth factor (FGF) family, which is involved in a variety of biological processes.

Function

FGF8 is a key molecule in the regulation of embryonic development and cell proliferation, as well as tissue repair. It also plays a role in the development of the central nervous system. FGF8 is necessary for the development of the midbrain and the hindbrain, and mutations in this gene have been associated with various types of brain malformations.

Structure

The FGF8 protein is a single-pass type I membrane protein, and it is approximately 30 kDa in size. It contains a signal peptide, a FGF domain, and a heparin-binding site. The FGF domain is responsible for the protein's ability to bind to fibroblast growth factor receptors (FGFRs).

Clinical significance

Mutations in the FGF8 gene have been associated with a number of conditions. For example, they have been linked to Kallmann syndrome, a condition characterized by hypogonadotropic hypogonadism and anosmia. Mutations in FGF8 have also been associated with idiopathic hypogonadotropic hypogonadism (IHH), a condition characterized by delayed or absent puberty and infertility.

See also

• Fibroblast growth factor
• Fibroblast growth factor receptor
• Kallmann syndrome
• Hypogonadotropic hypogonadism

References

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