TYROBP wt Allele

Preferred Label : TYROBP wt Allele;

NCIt synonyms : PLO-SL; TYRO Protein Tyrosine Kinase Binding Protein wt Allele; TYROBP; PLOSL; KARAP; DAP12;

NCIt definition : Human TYROBP wild-type allele is located in the vicinity of 19q13.1 and is approximately 4 kb in length. This allele, which encodes TYRO protein tyrosine kinase-binding protein, plays a role in the modulation of killer cell activation. Mutation of the gene is associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.;

GenBank Accession Number : NM_003332;

Details

Origin ID

C52334;

UMLS CUI

C1705703;

False automatic mappings
- Nasu-Hakola disease [ORDO Disease]
OMIM relation
- Tyro protein tyrosine kinase-binding protein [OMIM gene]
See also inter- (CISMeF)
- Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to BTNT
- Nasu-Hakola disease [DO Concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.1 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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