About: Lysosomal Trafficking Regulator     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Lysosomal Trafficking Regulator
rdfs:subClassOf
OMIM_Number
  • 606897
Semantic_Type
  • Amino Acid, Peptide, or Protein
Preferred_Name
  • Lysosomal Trafficking Regulator
UMLS_CUI
  • C0531296
Legacy_Concept_Name
  • Lysosomal_Trafficking_Regulator
FULL_SYN
  • CHS1SYNCI
  • CHS1 ProteinSYNCI
  • Beige ProteinSYNCI
  • Chediak-Higashi Syndrome 1SYNCI
  • Lysosomal Trafficking RegulatorPTNCI
Swiss_Prot
  • Q99698
DEFINITION
  • Lysosomal Trafficking Regulator, encoded by the human CHS1 gene, is a 425-kD cytoplasmic protein that may sort endosomal 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. CHS1 defects cause Chediak-Higashi Syndrome (CHS), an inherited immunodeficiency disease characterized by giant lysosomes and impaired leukocyte degranulation. (NCI)NCI
  • 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
code
  • C25970
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