Protein Muted homolog is a
protein that in humans is encoded by the MUTEDgene.[5][6]
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.[6]
Protein Muted homolog is a
protein that in humans is encoded by the MUTEDgene.[5][6]
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.[6]