Entrez 63915 | Ensembl ENSG00000188428 | |
Aliases BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5 External IDs MGI: 2178598 HomoloGene: 16374 GeneCards: BLOC1S5 | ||
Function
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. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene.
Interactions
MUTED has been shown to interact with BLOC1S2, Dysbindin and PLDN.
References
MUTED Wikipedia(Text) CC BY-SA