其他名称： VANGL1; STB2; Vang-like protein 1; Loop-tail protein 2 homolog; LPP2; Strabismus 2; Van Gogh-like protein 1
实测条带： 50kD
信号通路： WNT;WNT-T CELL
功能： disease: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 anterior meningocele (SDAM) [MIM:600145]. SDAM is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant.,similarity:Belongs to the Vang family.,subunit:Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction.,tissue specificity:Ubiquitous (PubMed:11956595). Expressed specifically in testis and ovary (PubMed:12011995).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein .
组织表达： According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
其他名称： VANGL1; STB2; Vang-like protein 1; Loop-tail protein 2 homolog; LPP2; Strabismus 2; Van Gogh-like protein 1
实测条带： 50kD
信号通路： WNT;WNT-T CELL
功能： disease: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 anterior meningocele (SDAM) [MIM:600145]. SDAM is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant.,similarity:Belongs to the Vang family.,subunit:Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction.,tissue specificity:Ubiquitous (PubMed:11956595). Expressed specifically in testis and ovary (PubMed:12011995).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein .
组织表达： According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
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