This gene encodes a multifunctional protein that binds
ubiquitin and regulates activation of the nuclear factor kappa-B
(NF-kB) signaling pathway. The protein functions as a
scaffolding/adaptor protein in concert with TNF receptor-associated
factor 6 to mediate activation of NF-kB in response to upstream
signals. Alternatively spliced transcript variants encoding either
the same or different isoforms have been identified for this gene.
Mutations in this gene result in sporadic and familial Paget
disease of bone.
