Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fibroblast growth factor receptor-like 1

The FGFRL1 gene encodes a protein that acts in connection with FGF receptors. It is predominantly expressed in the kidney. Mutations in that gene are common and in particular if located in the intracellular tail without clinical relevance.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Wiedemann M et al. (2000) Characterization of a novel protein (FGFRL1) from human cartilage related to FGF receptors.

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2.

Steinberg F et al. (2010) Rapid fusion and syncytium formation of heterologous cells upon expression of the FGFRL1 receptor.

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3.

NCBI article

NCBI 53834 [^]
4.

OMIM.ORG article

Omim 605830 [^]
5.

Wikipedia article

Wikipedia EN (Fibroblast_growth_factor_receptor-like_1) [^]
Update: April 29, 2019