TBL1X wt Allele

Preferred Label : TBL1X wt Allele;

NCIt synonyms : Transducin Beta Like 1 X-Linked wt Allele; Transducin-Beta-Like 1, X-Linked Gene; EBI; TBL1; Transducin (Beta)-Like 1X-Linked Gene; CHNG8; EBI, Drosophila, Homolog of Gene; Transducin Beta Like 1X-Linked Gene; Transducin (Beta)-Like 1 Gene; SMAP55;

NCIt definition : Human TBL1X wild-type allele is located within Xp22.31-p22.2 and is approximately 278 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1X, plays a role in the modulation of transcription. Mutation of the gene is associated with congenital nongoitrous hypothyroidism-8.;

NCIt note : For this gene, four transcript variants encoding two different isoforms have been identified. Additionally the TBL1X gene is highly similar to the Y chromosome TBL1Y gene. (EntrezGene);

NCI Metathesaurus CUI : CL1647911;

GenBank Accession Number : Y12781;

Details

Origin ID

C178211;

UMLS CUI

C5550976;

Automatic exact mappings (from CISMeF team)
- Hypothyroidism, congenital, nongoitrous, 8 [OMIM Phenotype]
- Transducin-beta-like 1, X-linked [OMIM gene]
- congenital nongoitrous hypothyroidism 8 [DO Concept]
OMIM relation
- Transducin-beta-like 1, X-linked [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_is_element_in_pathway
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Proteasome Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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