Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 18457)
Source: NCBI Gene (ID 18457)
Symbol: Bloc1s6
Full name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: BLOC-1; Hps9; Pldn; Stx13bp1; pa
Summary: 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]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 9.6), CNS E18 (RPKM 9.5) and 28 other tissues
Orthologs: human
Gene size: 10983bp
Exon count: 5