Also known as CHS, CHS1, lysosomal trafficking regulator, Mauve
protein-coding gene in the species Homo sapiens
This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013].
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).