Summary
Performance
Immunogen
Application
Background
Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008],disease:Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1) [MIM:308700]; also known as hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.,function:May be an adhesion-like molecule with anti-protease activity.,PTM:N-glycosylated.,similarity:Contains 1 WAP domain.,similarity:Contains 4 fibronectin type-III domains.,
Research Area
