Molecular weight (DA)
76kD
Immunogen
The antiserum was produced against synthesized peptide derived from human KAL1. AA range:151-200
Specificity
KALIG-1 Polyclonal Antibody detects endogenous levels of KALIG-1 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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],
Function
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.,
Other name
KAL1; ADMLX; KAL; KALIG1; Anosmin-1; Adhesion molecule-like X-linked; Kallmann syndrome protein
Human protein sequence Database
P23352
Mouse protein sequence database
Rat protein sequence database
Cellular localization
Cell membrane ; Peripheral membrane protein . Secreted . Proteolytic cleavage may release it from the cell surface into the extracellular space.
Tissue expression
Expressed in the cerebellum (at protein level).
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