FGF5

Chr 4AR

fibroblast growth factor 5

Also known as: HBGF-5, Smag-82, TCMGLY

NCBI Gene: 2250 ENSG00000138675 UniProt: P12034 OMIM: 165190

This gene encodes fibroblast growth factor 5, which regulates cell proliferation and differentiation and functions as an inhibitor of hair elongation by promoting progression from the hair growth phase to the regression phase. Mutations cause trichomegaly, a condition characterized by abnormally long eyelashes and hair, with autosomal recessive inheritance. The condition primarily affects hair growth regulation rather than neurological function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…