BLOC-1 subunit 5
Protein-coding gene in the species Homo sapiens
BLOC-1 subunit 5 is a protein that in humans is encoded by the BLOC1S5 gene (previously MUTED). This protein is part of the Biogenesis of lysosomal organelles complex 1 (BLOC-1) which, as its name suggests, is involved in biogenesis of lysosome-related organelles (LROs) such as melanosomes and dense granules in platelets.
01Function
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.
02Interactions
Sources and credits
This article is adapted from the Wikipedia article “BLOC-1 subunit 5”, written by its contributors and licensed under CC BY-SA 4.0. Fathomly has changed the layout, removed citation markers, navigation and maintenance notices, and adjusted punctuation. This adapted version is shared under the same license. For references, see the original article.
Images, from Wikimedia Commons:
- Ideogram human chromosome 6.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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