FGF17 Chromosome 8
Fibroblast growth factor 17
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What This Gene Does
This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family 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 protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Fibroblast growth factor family
Locus Type
gene with protein product
Location
8p21.3
Ensembl
ENSG00000158815
Associated Conditions (2)
Hypogonadotropic hypogonadism 20 without anosmia
Hypogonadotropic hypogonadism 20 with or without anosmia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398123025 | Health Risk | Pathogenic | Hypogonadotropic hypogonadism 20 without anosmia, Hypogonadotropic hypogonadism 20 without anosmia |
| RS398123024 | Health Risk | risk factor | Hypogonadotropic hypogonadism 20 with or without anosmia, Hypogonadotropic hypogonadism 20 with or without anosmia |