KAL1 Antibody – Mouse Monoclonal

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: proteinaceous extracellular matrix; extracellular space; plasma membrane

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

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

Disease: Hypogonadotropic Hypogonadism 1 With Or Without Anosmia