Target:KALIG-1
Gene Name:KAL1
Protein Name:Anosmin-1
Human Gene Id:3730
Human Swiss Prot No:P23352
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.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000;IHC 1:50-300
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:KAL1;ADMLX;KAL;KALIG1;Anosmin-1;Adhesion molecule-like X-linked;Kallmann syndrome protein
Observed Band(KD):76kD
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.,
Subcellular Location:Cell membrane ; Peripheral membrane protein . Secreted . Proteolytic cleavage may release it from the cell surface into the extracellular space.
Expression:Expressed in the cerebellum (at protein level).