The BLOC1S5 gene encodes Biogenesis of Lysosome-related Organelles Complex 1 Subunit 5. It is located on chromosome 6p24.3 and comprises 5 exons.
Pathogenic variants identified so far lead to loss of function (out of frame small deletion, submicroscopic deletion, nonsense, splice site).
The pathophysiological mechanism is linked to destabilization of BLOC1, leading to immature melanosomes in pigmented cells and reduced number or absence of dense granules in platelets.
BLOC1S5