VANGL1 Antibody – Rabbit

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]

VANGL1: Defects in VANGL1 are a cause of neural tube defects (NTD). 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). 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. Belongs to the Vang family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Adaptor/scaffold; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p13.1

Cellular Component: integral to membrane; lateral plasma membrane

Molecular Function: protein binding

Biological Process: multicellular organismal development

Disease: Neural Tube Defects; Sacral Defect With Anterior Meningocele