VANGL1

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]

Full Name

VANGL Planar Cell Polarity Protein 1

Biological Process

Biological Process pigmentation Source:Ensembl
Biological Process Wnt signaling pathway, planar cell polarity pathway Source:ParkinsonsUK-UCL1 Publication

Cellular Location

Cell membrane

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.
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.

Topology

Cytoplasmic: 1-117
Helical: 118-138
Extracellular: 139-151
Helical: 152-172
Cytoplasmic: 173-182
Helical: 183-203
Extracellular: 204-222
Helical: 223-243
Cytoplasmic: 244-524