NOX2/gp91phox is a critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. It also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of X-linke

ATF4 is a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like protein

The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synapto

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