| Gene Symbol |
SQSTM1
|
| Gene Synonyms |
p60 p62 A170 DMRV OSIL PDB3 ZIP3 p62B NADGP FTDALS3 |
| Gene Full Name |
sequestosome 1 |
| Gene Summary |
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] |
| Molecular Weight(MW) |
48kDa |
| Cellular Localization |
Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Lysosome, Nucleus |