Pallidin (PLDN)
PA; BLOC1S6 ; BLOS6; HPS9; PA; PALLID; Pallid Homolog; Biogenesis of Lysosomal Organelles Complex-1, Subunit 6; Syntaxin 13-interacting protein
Pallidin may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. 'Pallid' is 1 of 13 platelet storage pool deficiency (SPD) mouse mutants. Pallid (pa) animals suffer from prolonged bleeding time, pigment dilution, kidney lysosomal enzyme elevation, serum alpha-1-antitrypsin activity deficiency, and abnormal otolith formation. As with other mouse mutants of this class, characterization of pallid mice suggested a defect in organelle biosynthesis.The gene encodes a ubiquitously expressed, highly charged 172-amino acid protein, which they called pallidin, with no homology to known proteins.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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Organism species: Rattus norvegicus (Rat)
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