UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
B B B0 B1 B4 B7 B8 BA BB BC BD BE BF BG BH BI BK BL BM BN BO BP BR BS BT BU BV BW BX BY BZ
BE BE+ BEA BEB BEC BED BEE BEF BEG BEH BEI BEK BEL BEM BEN BEP BER BES BET BEU BEV BEX
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1. Beige Protein
[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

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