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Heparin-binding epidermal growth factor-like growth factor (HB-EGF) is a 22kDa O-glycosylated protein that is a potent mitogen and chemoattractant for vascular smooth muscle cells, fibroblasts and epithelial cells but not endothelial cells. The natural protein has an apparent molecular mass of 19-23 kDa and exists in multiple forms as a result of heterogeneous O-glycosylation and/or Nterminal truncation. HB-EGF is synthesized as a membrane-anchored precursor(proHB-EGF) that is proteolyticall

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are express

This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

CRBN is a 442 amino acid protein which is highly concentrated in human brain tissue. CRBN functions are thought to be related to energy metabolism, learning and memory. Localized to the cytoplasm, CRBN acts as a protease in mitochondria and is thought to regulate the assembly of KCNT1, as well as the surface expression of KCNT1 in brain regions known to affect memory and learning, such as the hippocampus. The gene encoding CRBN belongs to a family of ATP-dependent lon proteases that play a r

Talin, a multifunctional constituent of cell-substratum attachment sites, is a high molecular weight protein (225-270 kDa) found in variety of tissues and cell types. It is localized at a subset of adherens junctions, specialized cell-cell and cell-matrix associations that are characterized by the presence of filamentous actin at the cytoplasmic face of the junctional complex. In cultured cells, talin is absent from cell-cell junctions and found predominantly at adhesion plaques and in fibr

The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam.[provided by RefSeq, May 2010].