von Willebrand factor A domain containing 3B (VWA3B)

The von Willebrand factor A domain containing 3B protein (VWA3B) is an intracellular protein featuring a VWA domain—a structural motif classically found in proteins with a role in cell adhesion and the assembly of multiprotein complexes[4]. Unlike the plasma/extracellular von Willebrand factor itself, VWA3B is localized intracellularly and contributes to diverse processes including transcriptional regulation, DNA repair, ribosomal transport, membrane trafficking, and proteasome function. Mutations in VWA3B are associated with autosomal recessive spinocerebellar ataxia type 22 (SCAR22), a neurodegenerative disorder marked by motor coordination deficits[2]. Multiple transcript variants exist, reflecting plausible functional diversity in human tissues. VWA3B is not currently recognized as a pharmacological receptor, enzyme, or transporter, nor are there approved drugs targeting it directly.

Other names

SCAR22DKFZp686F2227MGC26733VWA domain-containing protein 3Bvon Willebrand factor A domain-containing protein 3BVWA3B

None known for drugs targeting this molecule