Bloc1s6 - biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Alias:
pa
Hps9
Pldn
BLOC-1
Stx13bp1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
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Related Mouse Models
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Predicted to enable actin filament binding activity and protein homodimerization activity. Involved in several processes, including cellular amino acid metabolic process; limbic system development; and vesicle organization. Acts upstream of or within several processes, including melanocyte differentiation; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Located in ciliary basal body and endosome. Part of BLOC-1 complex. Is expressed in brain; spinal cord; and thoracic ganglion. Used to study Hermansky-Pudlak syndrome 9; platelet storage pool deficiency; and pulmonary emphysema. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6). [provided by Alliance of Genome Resources, Apr 2022]