Product Information
Molecular Weight59975Da
Protein NameVang-like protein 1
Human Gene Id81839
Human Swiss Prot NoQ8TAA9
Mouse Gene Id229658
Mouse Swiss Prot NoQ80Z96
SpecificityVangl1 Polyclonal Antibody detects endogenous levels of Vangl1 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameVANGL1; STB2; Vang-like protein 1; Loop-tail protein 2 homolog; LPP2; Strabismus 2; Van Gogh-like protein 1
Observed Band(KD)50
Functiondisease:Defects in VANGL1 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations. The most common forms of NTD are described as open defects (including anencephaly and myelomeningocele, or spina bifida), which result from the failure of fusion in the cranial and spinal region of the neural tube, respectively. Other open dysraphisms (including myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiari type 2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the presence of a subcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele) or the absence of such a mass (complex dysraphic states, including split cord malformations, dermal sinus, caudal regression, and segmental spinal dysgenesis).,disease:Defects in VANGL1 are a cause of sacral defect with
Subcellular LocationCell membrane ; Multi-pass membrane protein .
ExpressionAccording to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
BackgroundVANGL planar cell polarity protein 1(VANGL1) Homo sapiens This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010],