Gene: VANGL1

Alternate names for this Gene: KITENIN|LPP2|STB2|STBM2

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.1

Description of this Gene: VANGL planar cell polarity protein 1

Type of Gene: protein-coding

rs121918219 in VANGL1 gene and NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO PMID 19319979 2009 Novel mutations in VANGL1 in neural tube defects.

PMID 17409324 2007 Mutations in VANGL1 associated with neural-tube defects.

rs121918218 in VANGL1 gene and Sacral defect and anterior sacral meningocele PMID 17409324 2007 Mutations in VANGL1 associated with neural-tube defects.