Anti-VANGL1 antibody (ab69227)

Tissue specificity

Accordiing to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.

Involvement in 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.

Sequence similarities

Belongs to the Vang family.

Cellular localization

Membrane.

Alternative names

Database links