Gene: LOC105378457

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: FGF8

Alternate names for this Gene: AIGF|FGF-8|HBGF-8|HH6|KAL6

Gene Summary: 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 protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.32

Description of this Gene: fibroblast growth factor 8

Type of Gene: protein-coding

rs137852663 in LOC105378457;FGF8 gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 18596921 2008 Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

rs606231407 in LOC105378457;FGF8 gene and Idiopathic hypogonadotropic hypogonadism PMID 23533228 2013 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

rs606231407 in LOC105378457;FGF8 gene and Sense of smell impaired PMID 23533228 2013 Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.