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This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

In yeast, autophagy is an essential process for survival during nutrient starvation and cell differentiation. The process of autophagy is characterized as a non-selective degradation of cytoplasmic proteins into membrane stuctures called autophagosomes, and it is dependent on several proteins, including the autophagy proteins APG5 and APG7. Yeast Apg7 and the human homolog, APG7, share similarities with the ubiquitin-activating enzyme E1 in Saccharomyces cerevisiae and are likewise respons

Nucleotides are emerging as important extracellular signaling molecules that mediate several effects, such as proliferation, differentiation, chemotaxis and cytokine release. The P2 receptor family is activated by the binding of nucleotides and is divided into two subfamilies, P2X and P2Y. The P2X receptor family is comprised of ligand-gated ion channels that allow for the increased permeability of calcium into the cell in response to extracellular ATP. The P2Y receptor family are G protein-

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3

The multifunctional CaMKII beta, or Ca2+/calmodulin-dependent protein kinase II, is a well known effector of calcium- and calmodulin- mediated functions. It is present in many tissues but is most abundant in the brain. CaMKII is composed of four different chains: alpha, beta, gamma, and delta. The different isoforms assemble into homo- or heteromultimeric holoenzymes composed of 8 to 12 subunits. Autophosphorylation plays an important role in the regulation of the kinase activity. CaMKII is r

This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in t