LYST wt Allele

Preferred Label : LYST wt Allele;

NCIt synonyms : CHS1; Lysosomal Trafficking Regulator wt Allele; Chediak-Higashi Syndrome 1 Gene; CHS1 Gene; LYST; CHS; CHS1 wt Allele;

NCIt definition : Human LYST wild-type allele is located within 1q42.1-q42.2 and is approximately 223 kb in length. This allele, which encodes lysosomal-trafficking regulator protein, plays a role in the modulation of intracellular protein sorting. Mutations in the gene are associated with Chediak-Higashi syndrome.;

GenBank Accession Number : NM_000081;

Details

Origin ID

C52500;

UMLS CUI

C1705344;

OMIM relation
- Lysosomal trafficking regulator [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Chediak-Higashi Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 232323008-232150384 [NCIt concept]
gene_in_chromosomal_location
- 1q42.1-q42.2 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]
- Vacuolar Protein Sorting [NCIt concept]

Keyword's position in hierarchy(ies) :

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