BLOC1S5

biogenesis of lysosomal organelles complex 1 subunit 5

Summary

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

Known Variants23 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs367984586	6:8,015,901	G/A	—	uncertain significance
rs144750136	6:8,015,943	T/C	—	likely benign
rs9392945	6:8,016,838	A/G	intron variant	—
rs9392189	6:8,021,532	A/T	—	—
rs369022314	6:8,026,611	C/G	—	uncertain significance
rs764780126	6:8,026,660	T/G	—	likely pathogenic
rs369265282	6:8,041,402	G/A	—	uncertain significance
rs1581416437	6:8,041,414	T/C	—	uncertain significance
rs201631484	6:8,041,446	T/C	—	uncertain significance
rs149984222	6:8,041,468	C/T	—	uncertain significance
rs183115218	6:8,041,495	G/A	—	uncertain significance
rs780995130	6:8,041,496	T/A	—	uncertain significance
rs75648425	6:8,054,505	T/C	—	likely benign
rs2743992	6:8,054,722	T/C	intron variant	—
rs370465146	6:8,062,789	C/T	—	uncertain significance
rs748667570	6:8,062,792	G/A	—	uncertain significance
rs757169126	6:8,064,502	G/C	—	uncertain significance
rs199888041	6:8,064,552	T/C	—	likely benign
rs761808728	6:8,064,560	C/T	—	uncertain significance
rs140675160	6:8,064,585	G/A	—	uncertain significance
rs144221198	6:8,064,586	G/A	—	likely benign
rs1757380540	6:8,064,591	C/A	—	likely pathogenic
rs1757381494	6:8,064,608	A/C	—	pathogenic

Gene information from NCBI Gene. Variant classifications from ClinVar.