Biogenesis Of Lysosomal Organelles Complex 1, Subunit 5 (BLOC1S5)

MUTED encodes a component of BLOC-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. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene.The deduced protein has 187 amino acids and contains a possible vacuolar targeting motif (TLPK) that is absent from the mouse sequence. The mouse and human proteins share 76% sequence identity.Full-length muted cDNA encodes a deduced 185-amino acid protein. Northern blot analysis revealed ubiquitous expression of a 1.8-kb transcript in normal mice, with higher levels in brain, bone marrow, kidney, and liver and lower levels in skeletal muscle.