ANOS1
Function
Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.
Involvement in disease
Hypogonadotropic hypogonadism 1 with or without anosmia
HH1
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).
None
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in ANOS1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382).
Post-translational modifications
N-glycosylated.
May be proteolytically cleaved at the cell surface and released from the cell surface.
Tissue Specificity
Expressed in the cerebellum (at protein level).
Cellular localization
- Cell membrane
- Peripheral membrane protein
- Secreted
- Proteolytic cleavage may release it from the cell surface into the extracellular space.
Alternative names
ADMLX, KAL, KAL1, KALIG1, ANOS1, Anosmin-1, Adhesion molecule-like X-linked, Kallmann syndrome protein