KAL1 Antibody – Rabbit Polyclonal

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]

KAL1: 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. Chemoattractant for fetal olfactory epithelial cells. Defects in KAL1 are the cause of Kallmann syndrome type 1 (KAL1); 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.

Protein type: Motility/polarity/chemotaxis; Extracellular matrix

Chromosomal Location of Human Ortholog: Xp22.32

Cellular Component: extracellular space; proteinaceous extracellular matrix; plasma membrane

Molecular Function: serine-type endopeptidase inhibitor activity; heparin binding; protein binding; extracellular matrix structural constituent

Biological Process: axon guidance; chemotaxis; cell adhesion; cell motility

Disease: Hypogonadotropic Hypogonadism 1 With Or Without Anosmia