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Hexokinases phosphorylate glucose to produce glucose 6 phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in three tissue specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose 6 phosphate but remains active while glucose is abundant. Mutations in t
Tbx3 gene is a member of a phylogenetically conserved family of genes that share a common DNA binding domain, the T box. T box genes encode transcription factors involved in the regulation of developmental processes. Tbx3 is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene
SLAM, a novel glycoprotein of 37kDa, designated SLAM (Signaling Lymphocyte Activation Molecule) or CDw150, belongs to the immunoglobulin gene superfamily and is involved in T cell stimulation. SLAM is constitutively expressed on peripheral blood memory T cells, T cell clones, immature thymocytes, and a proportion of B cells, and is rapidly induced on naive T cells after activation. Activated B cells express the membrane bound form of SLAM and the soluble and cytoplasmic isoforms of SLAM, a
Differentiation of myogenic cells is regulated by multiple positively and negatively acting factors. One well characterized family of helix-loop-helix (HLH) proteins known to play an important role in the regulation of muscle cell development include Myo D, myogenin, Myf-5 and Myf-6 (also designated MRF-4 or herculin). Of interest, most muscle cells express either Myo D or Myf-5 in the committed state, but when induced to differentiate, all turn on expression of myogenin. Myo D transcription
The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in m