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Titin, also known as connectin, is a large protein involved in the temporal and spatial control of the assembly of the highly ordered sarcomeres (contractile units) of striated muscle. In addition to sarcomere assembly Titin also functions to maintain the structural integrity of the contracting myofibrils within the muscle and to organize the machinery for condensation of chromosomes in dividing cells. Titin is a giant protein composed of 27,000 amino acids and contains an autoregulated seri

May be involved in chondrogenesis (cartilage development) during bone formation. Unlikely to play a role in sex determination but may function during testicular and ovarian differentiation (By similarity). Transcriptional activator. Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox10 to induce neural crest progenitors. Induces sox10 expression downstream of wnt-signaling. Principally involved in development of the cranial neural cres

May be involved in chondrogenesis (cartilage development) during bone formation. Unlikely to play a role in sex determination but may function during testicular and ovarian differentiation (By similarity). Transcriptional activator. Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox10 to induce neural crest progenitors. Induces sox10 expression downstream of wnt-signaling. Principally involved in development of the cranial neural cres

May be involved in chondrogenesis (cartilage development) during bone formation. Unlikely to play a role in sex determination but may function during testicular and ovarian differentiation (By similarity). Transcriptional activator. Acts early in neural crest formation, functioning redundantly with the other group E Sox factors sox8 and sox10 to induce neural crest progenitors. Induces sox10 expression downstream of wnt-signaling. Principally involved in development of the cranial neural cres

This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [

This gene encodes an integral membrane protein which is located at tight junctions. This protein may be involved in the formation and maintenance of the tight junction. The possibility of several alternatively spliced products has been suggested but the full nature of these products has not been described. [provided by RefSeq].