(Solute Carrier Family 39 (Zinc Transporter), Member 3 (SLC39A3))
Catégories
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. [provided by RefSeq, Mar 2009].
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Kanninen, Grubman, Caragounis, Duncan, Parker, Lidgerwood, Volitakis, Ganio, Crouch, White: "Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis." dans: Biology open, Vol. 2, Issue 6, pp. 635-46, (2013) (PubMed).
Synonymes et noms alternatifs relatifs à SLC39A3
solute carrier family 39 (zinc transporter), member 3 (Slc39a3), solute carrier family 39 (zinc transporter), member 3 (slc39a3), solute carrier family 39 member 3 (SLC39A3), solute carrier family 39 member 3 (Slc39a3), AI845814, wu:fc84e09, zgc:158334, Zip3, ZIP3