STX11 wt Allele

Preferred Label : STX11 wt Allele;

NCIt synonyms : HLH4; HPLH4; Syntaxin 11 wt Allele; FHL4;

NCIt related terms : FHL4 / Syntaxin 11 (STX11);

NCIt definition : Human STX11 wild-type allele is located in the vicinity of 6q24.2 and is approximately 41 kb in length. This allele, which encodes syntaxin-11 protein, is involved in the regulation of protein transport between late endosomes and the trans-Golgi network. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 4.;

GenBank Accession Number : NM_003764;

Details

Origin ID

C114620;

UMLS CUI

C3889449;

Automatic exact mappings (from CISMeF team)
- Hemophagocytic lymphohistiocytosis, familial, 4 [OMIM Phenotype]
- familial hemophagocytic lymphohistiocytosis 4 [DO Concept]
OMIM relation
- Syntaxin 11 [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_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Familial Hemophagocytic Lymphohistiocytosis Type 4 [NCIt concept]
gene_is_element_in_pathway
- SNARE Proteins Vesicular Transport Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients