Anti-Human FGF-17 Polyclonal Antibody (RMAB-0251590)
Cat. No.: RMAB-0251590
Category: Primary Antibodies
INQUIRY
50 μg
100 μg
Product Features
| Clonality | Polyclonal |
|---|---|
| Host Species | Goat |
| Immunogen | E.coli derived Recombinant Human FGF-17 |
Target Information
| Target Symbol | FGF17 |
|---|---|
| Target Name | Fibroblast growth factor 17 |
| UniProt ID | O60258 |
| Cellular Localization | Secreted. |
| Function | Plays an important role in the regulation of embryonic development and as signaling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. |
| Involvement in Disease | Hypogonadotropic hypogonadism 2 with or without anosmia (HH2): A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGF17 also have a mutation in another HH-associated gene including FGFR1, HS6ST1 and FLRT3 (PubMed:23643382). |
| Sequence Similarities | Belongs to the heparin-binding growth factors family. |
For research use only. Not for clinical use.
