[Chediak-Higashi Syndrome 1, encoded by the human CHS1 gene, is Lysosomal-Trafficking Regulator Protein. This 425-kD cytoplasmic protein may sort endosomal resident proteins into late multivesicular endosome by a mechanism involving microtubules. It contains 7 WD repeats (TRP-ASP domains) and 1 beach domain, and is abundantly expressed in adult and fetal thymus, peripheral blood leukocytes, bone marrow and several regions of the adult brain. At least 3 isoforms (1, 2, 3) are produced by alternative splicing. Defects in the CHS1 gene are the cause of Chediak-Higashi Syndrome (CHS), an inherited immunodeficiency disease characterized by giant lysosomes and impaired leukocyte degranulation. (From LocusLink, Swiss-Prot, PubMed and NCI) ( NCI )]
UMLS (NCI) C0531296 - Amino Acid, Peptide, or Protein
- Biologically Active Substance