Fibroblast growth factor receptor mutations

Definition

Fibroblast growth factor receptors (FGFRs) are a family of proteins specialized in growth inhibition. Mutations in these molecules lead to various genetic disorders involving short stature and/or premature fusion of the bones of the skull. There are at least four known FGFRs (FGFR1, FGFR2, FGFR3, FGFR4).

Description

As a group, FGFRs are very similar to each other in their structure and function. All are transmembrane proteins composed of three distinct parts. A binding site on the exterior of the cell membrane, an active site on the interior of the cell membrane, and a connecting section spanning the cell membrane and joining the inner and outer components.

Fibroblast growth factors (FGFs)...

[The entire page is 2611 words long]

Join eNotes

The above is a free excerpt. Get total access to this content with the:

Lookup any word on eNotes with our dictionary. Highlight the word and press SHIFT + D for a definition, or SHIFT + T for a synonym.