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Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate heteromeric ACCN3/ACCN2 channel.

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008].

SETBP1 (SET binding protein 1), also known as SEB, is a 1,542 amino acid nuclear protein that contains three AT hook DNA-binding domains, one SKI homology region and a C-terminal SET-binding domain, which is followed by three PPLPPPPP repeats. SETBP1 may be involved in SET-related tumorigenesis and leukemogenesis by regulating the transforming activity of SKI in the nucleus or suppressing SET function. As a widely expressed protein, SETBP1 is encoded by a gene that maps to human chromosome 18

Ubiquitin-dependent proteolysis mediates selective destruction of various cell cycle regulators, transcription factors and tumor suppressors. In eukaryotic cells, selective breakdown of cellular proteins is ensured by their ubiquitination and subsequent degradation by the 26S proteasome. At specific stages of development, embryo- and tissue-specific components of the 26S proteasome form, facilitating proteolysis. 20S Proteasome ?, also designated macropain subunit C2 or PROS-30, is a prosom

The mini-chromosome maintenance (MCM) family of proteins, including MCM2, MCM3, MCM4 (Cdc21), MCM5 (Cdc46), MCM6 (Mis5) and MCM7 (Cdc47), are regulators of DNA replication that act to ensure replication occurs only once in the cell cycle. Expression of MCM proteins increases during cell growth, peaking at G1 to S phase. The MCM proteins each contain an ATP-binding motif, which is predicted to mediate ATP-dependent opening of double-stranded DNA. MCM proteins are regulated by E2F transcription

The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010].