background:
The Vang family of proteins are integral membrane proteins that are homologues of the Drosophila tissue polarity gene strabismus. The gene encoding for Van Gogh-like protein 1 (Vangl1), also designated Strabismus 2 (STB2), localizes to human chromosome 1p11-p13.1. Van Gogh-like protein 2 (Vangl2), also designated Strabismus 1 (STB1), localizes to chromosome 1q22-q23. Vangl1 is expressed primarily in testis and ovary, but is also expressed in gastric and pancreatic cancer. Vangl proteins play a key developmental role in establishing planar cell polarity (PCP) and in regulating convergent extension (CE) movements during embryogenesis. Vangl1 and Vangl2 are both downregulated in several cancer cell lines and primary tumors.
Subunit:
Interacts through its SLCterminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction (By similarity).
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
Tissue Specificity:
According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
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).
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.
Database links:
Entrez Gene: 81839 Human
Entrez Gene: 229658 Mouse
Entrez Gene: 690366 Rat
Omim: 610132 Human
SwissProt: Q8TAA9 Human
SwissProt: Q80Z96 Mouse
Unigene: 515130 Human
Unigene: 23604 Mouse
Unigene: 35269 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
LPP2是一种分子量为60kDa的多次跨膜蛋白，是Vang蛋白家族成员之一。VANGL1由524个氨基酸组成，其中包括4个跨膜结构域。VANGL1可能一种肿瘤抑制基因，该基因的突变会导致神经管缺失（neural tube defects ，NTD）。
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