LZTR1 wt Allele

Preferred Label : LZTR1 wt Allele;

NCIt synonyms : LZTR-1; Leucine Zipper Like Transcription Regulator 1 wt Allele; BTBD29; TCFL2; Leucine-Zipper-Like Transcription Regulator 1 Gene; NS10; SWNTS2;

NCIt definition : Human LZTR1 wild-type allele is located in the vicinity of 22q11.21 or within 22q11.1-q11.2 and is approximately 20 kb in length. This allele, which encodes leucine-zipper-like transcriptional regulator 1 protein, may play a role in transcriptional regulation or Golgi functions. Mutation of the gene is associated with Noonan syndrome 10 and increased susceptibility to schwannomatosis 2. Deletion of the gene may be associated with DiGeorge syndrome.;

NCI Metathesaurus CUI : CL508861;

GenBank Accession Number : D38496;

Details

Origin ID

C128258;

UMLS CUI

C4283804;

Automatic exact mappings (from CISMeF team)
- Leucine zipper-like transcriptional regulator 1 [OMIM gene]
- Noonan syndrome 10 [DO Concept]
- Noonan syndrome 10 [OMIM Phenotype]
- Schwannomatosis 2 [OMIM Phenotype]
- leucine zipper like transcription regulator 1 [ORDO Gene]
OMIM relation
- Leucine zipper-like transcriptional regulator 1 [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
- LZTR1 Schwannomatosis 2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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