VANGL1
Involvement in disease
Neural tube defects
NTD
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
None
The disease is caused by variants affecting the gene represented in this entry.
Sacral defect with anterior meningocele
SDAM
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Vang family.
Tissue Specificity
According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed specifically in testis and ovary.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
STB2, VANGL1, Vang-like protein 1, Loop-tail protein 2 homolog, Strabismus 2, Van Gogh-like protein 1, LPP2