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Lyst (company)
Lysosomal trafficking regulator is a vesicular transport protein associated with Chédiak–Higashi syndrome. In melanocytic cells LYST gene expression may be regulated by MITF Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene. MITF is a basic helix-loop-helix leucine zipper transcription factor .... References External links GeneReviews/NCBI/NIH/UW entry on Chediak-Higashi Syndrome
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Vesicular Transport Protein
A vesicular transport protein, or vesicular transporter, is a membrane protein that regulates or facilitates the movement of specific molecules across a vesicle's membrane. As a result, vesicular transporters govern the concentration of molecules within a vesicle. Types Examples include: * Archain * ARFs * Clathrin * Caveolin * Dynamin and related proteins, such as the EHD protein family * Rab proteins * SNAREs * Vesicular transport adaptor proteins e.g. Sorting nexins * Synaptotagmin * TRAPP complex * Synaptophysin * Auxilin Pathways There are multiple pathways, each using its own coat and GTPase. * COP 1 (Cytosolic coat protein complex ) : retrograde transport; Golgi ----> Endoplasmic reticulum * COP 2 (Cytosolic coat protein complex ) : anterograde transport; RER -----> cis-Golgi * Clathrin : trans-Golgi ----> Lysosomes, Plasma membrane ----> Endosomes ( receptor-mediated endocytosis) See also * Membrane transport protein A membrane transport protein (or si ...
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Chédiak–Higashi Syndrome
Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy. In Chédiak–Higashi syndrome, the lysosomal trafficking regulator (LYST) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells. This results in defective white blood cell function with enlarged vesicles. This syndrome also leads to neutropenia and phagocyte bactericidal dysfunction due to impaired chemotaxis. Deficiency in serotonin and adenosine-phosphate-containing granules in platelets causes impaired platelet aggregation, leading to prolonged bleeding time. Thus, patients are susceptible to infections and often present with oculo-cutaneous albinism and coagulation defects. Patients often p ...
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