Target intelligence / Profile preview

Von Willebrand factor A domain-containing protein 5B1 (VWA5B1)

Target
VWA5B1
Molecular classification
Other (contains a von Willebrand factor A (VWA) domain; not established as a receptor, enzyme, transporter, or transcription factor)
01

Overview

Von Willebrand factor A domain-containing protein 5B1 (VWA5B1) is a member of the von Willebrand factor A (VWA) domain-containing protein family. It is a protein-coding gene with currently poorly defined biological functions in human physiology or pathology. The protein is predicted to be extracellular, and its gene is associated with certain inherited diseases (including Usher syndrome type If and Niemann–Pick disease type C2), but there is no direct evidence for its causal involvement, nor is it established as a classical therapeutic target, receptor, enzyme, transporter, or transcription factor[5][3]. No drugs are known to modulate VWA5B1, and major databases do not currently list it as a receptor or validated target for therapeutic intervention. Its role may be structural or involved in extracellular protein-protein interactions, but this remains speculative[5][3].

Other names
FLJ32784VW5B1Von Willebrand factor A domain containing 5B1
02

Biological functions

Unknown/unclear in literatureMay play a structural role due to VWA domain (inferred from domain homology; not established by direct functional studies)
03

Disease associations

Usher syndrome, type IfNiemann–Pick disease, type C2Other (gene-disease association, but causal or functional link unclear)

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