MLXIPL wt Allele

Preferred Label : MLXIPL wt Allele;

NCIt synonyms : BHLHD14; MONDOB; WS-bHLH; CHREBP; Williams Beuren Syndrome Chromosome Region 14 Gene; WBSCR14; MIO; MLX Interacting Protein-Like wt Allele;

NCIt definition : Human MLXIPL wild-type allele is located in the vicinity of 7q11.23 and is approximately 31 kb in length. This allele, which encodes carbohydrate-responsive element-binding protein, is involved in the regulation of transcription. Deletion of the gene is associated with Williams-Beuren syndrome.;

NCIt note : The human MLXIPL gene is expressed as at least 4 isoforms of the carbohydrate-responsive element-binding protein. The expression of the beta isoform may be associated with insulin sensitivity. (UniProt and Nature. 2012; 484:333-338.);

GenBank Accession Number : AK055029;

Details

Origin ID

C102475;

UMLS CUI

C3538729;

OMIM relation
- Mlx-interacting protein-like [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_in_chromosomal_location
- 7q11.23 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- ChREBP Pathway [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- DNA Binding [NCIt concept]
- Glycolysis Induction [NCIt concept]
- Homeostatic Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Stimulation of Cell Proliferation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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