Von Willebrand Factor A Domain Containing Protein 5A (vWA5A)

BCSC1, consists of 20 exons instead of 10 and possesses a larger open reading frame. The mouse gene was found to span a genomic region of 25 kb and to comprise 20 exons also. Unlike the human BCSC1 gene, it is expressed as a single mRNA transcript of approximately 4 kb and encodes a 793-amino acid protein with a predicted molecular mass of 87 kD. The breakpoint was found within 6 kb of the BCSC1 candidate tumor suppressor gene located in the LOH11CR2 region, whereas additional LOH analysis in breast and ovarian tumors, including that of the patient with the t(11;12)(q23;q24) translocation, implicated the BCSC1 locus as the primary target of deletion. Other results indicated that the mechanism for BCSC1 gene inactivation in tumor cells is the loss of gene expression of one allele and deletion of the other.