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The official name of this gene is “fibroblast growth factor 3.”
FGF3 is the gene's official symbol. The FGF3 gene is also known by other names, listed below.
The FGF3 gene provides instructions for making a protein called fibroblast growth factor 3 (FGF3). This protein is part of a family of proteins called fibroblast growth factors that are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and development before birth. By attaching to another protein known as a receptor, FGF3 triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth.
Mutations in the FGF3 gene cause a condition known as congenital deafness with labyrinthine aplasia, microtia, and microdontia (also known as LAMM syndrome). The features of this condition include deafness caused by a lack of inner ear structures (labyrinthine aplasia), small outer ears (microtia), and small teeth (microdontia). The gene mutations involved in LAMM syndrome change single protein building blocks (amino acids) in the FGF3 protein or lead to an abnormally short protein. The altered protein likely has reduced or absent function, making it unable to stimulate signaling within cells. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 69,624,735 to 69,634,191
The FGF3 gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the FGF3 gene is located from base pair 69,624,735 to base pair 69,634,191 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about FGF3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cell ; cell division ; congenital ; fibroblast ; gene ; growth factor ; oncogene ; protein ; proto-oncogene ; receptor ; syndrome ; tumor ; virus
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.