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The official name of this gene is “fibroblast growth factor receptor-like 1.”
FGFRL1 is the gene's official symbol. The FGFRL1 gene is also known by other names, listed below.
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Has a negative effect on cell proliferation.
|194190 (http://omim.org/entry/194190)||WOLF-HIRSCHHORN SYNDROME|
|605830 (http://omim.org/entry/605830)||FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1|
Cytogenetic Location: 4p16
Molecular Location on chromosome 4: base pairs 1,009,979 to 1,026,898
The FGFRL1 gene is located on the short (p) arm of chromosome 4 at position 16.
More precisely, the FGFRL1 gene is located from base pair 1,009,979 to base pair 1,026,898 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
amino acid ; amino acid sequence ; cell ; cell proliferation ; differentiation ; domain ; evolution ; extracellular ; fibroblast ; gene ; gene product ; growth factor ; immunoglobulin ; kinase ; ligand ; monosomy ; proliferation ; protein ; receptor ; syndrome ; tissue ; transcript ; transmembrane ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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