BHLHE22 wt Allele

Preferred Label : BHLHE22 wt Allele;

NCIt synonyms : bHLHe22; TNRC20; CAGL85; Trinucleotide Repeat-Containing 20 Gene; Beta3; BHLHB5 wt Allele; BHLHB5; Basic Helix-Loop-Helix Family, Member e22 wt Allele; Basic Helix-Loop-Helix Domain Containing, Class B, 5 Gene;

NCIt definition : Human BHLHE22 wild-type allele is located in the vicinity of 8q13 and is approximately 3 kb in length. This allele, which encodes class E basic helix-loop-helix protein 22, plays a role in the modulation of transcription during neuronal development.;

NCIt note : Aberrant expression of the gene may play a role in diseases that exhibit motor neuron degeneration.; The chromosomal location of the BHLHB5 gene is associated with Duane syndrome. (Genomics 2002; 80:311-318.);

GenBank Accession Number : U80755;

Details

Origin ID

C79757;

UMLS CUI

C2698300;

OMIM relation
- Basic helix-loop-helix family, member e22 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8q13 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Neural Development [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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