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This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with alle

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]

Beta 2 Adrenergic Receptor is a member of the G protein coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L type calcium channel Ca(V)1.2. This receptor channel complex also contains a G protein, an adenylyl cyclase, cAMP dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein coupled receptor. This gene c

Mammalian ferritins consist of 24 subunits made up of two types of poly-peptide chains, ferritin heavy chain and ferritin light chain, which each have unique functions. Ferritin heavy chains catalyze the first step in iron storage, the oxidation of FeII, whereas ferritin light chains promote the nucleation of ferrihydrite, enabling storage of FeIII. The most prominent role of mamma-lian ferritins is to provide iron-buffering capacity to cells. In addition to iron buffering, heavy chain ferriti

Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zin

The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant def