VANGL1 gene

VANGL planar cell polarity protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Sacral defect with anterior meningocele
  • Neural tube defect

From UniProt:

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. [MIM:600145]

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. [MIM:182940]

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1

Molecular Location: base pairs 115,641,953 to 115,698,224 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1
  • KITENIN
  • LPP2
  • STB2
  • STBM2