Description

Other Name: VWA5A; BCSC1; LOH11CR2A; von Willebrand factor A domain-containing protein 5A; Breast cancer suppressor candidate 1; BCSC-1; Loss of heterozygosity 11 chromosomal region 2 gene A protein

Background: VWA5A (von Willebrand factor A domain containing 5A), also known as BCSC-1 (breast cancer suppressor candidate 1) or LOH11CR2A (loss of heterozygosity 11 chromosomal region 2 gene A protein), is a 786 amino acid protein containing one VIT domain and one VWFA domain. VWA5A is expressed at low levels in various tissues, with no expression found in 80% of tumor cell lines. Likely acting as a tumor suppressor gene, deletion of VWA5A leads to loss of heterozygosity (LOH) in breast and ovarian tumors, and may have an important role as a potential gene therapy target. Abnormal expression of VWA5A may lead to an increase in adhesion of CNE-2L2 cells associated with an increase in expression of E-cadherin, alpha-catenin, and p53, resulting in a decrease of malignant activity in cells with ectopic expression of VWA5A. Existing as four alternatively spliced isoforms, the gene encoding VWA5A maps to human chromosome 11q24.2.