About: BHLHE22 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • BHLHE22 wt Allele
rdfs:subClassOf
OMIM_Number
  • 613483
GenBank_Accession_Number
  • U80755
Semantic_Type
  • Gene or Genome
Preferred_Name
  • BHLHE22 wt Allele
UMLS_CUI
  • C2698300
EntrezGene_ID
  • 27319
Legacy_Concept_Name
  • BHLHB5_wt_Allele
HGNC_ID
  • HGNC:11963
FULL_SYN
  • Basic Helix-Loop-Helix Domain Containing, Class B, 5 GeneSYNCI
  • BHLHE22 wt AllelePTNCI
  • Beta3SYNCI
  • CAGL85SYNCI
  • BHLHB5SYNCI
  • TNRC20SYNCI
  • Trinucleotide Repeat-Containing 20 GeneSYNCI
  • bHLHe22SYNCI
  • Basic Helix-Loop-Helix Family, Member e22 wt AlleleSYNCI
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.NCI
DesignNote
  • The chromosomal location of the BHLHB5 gene is associated with Duane syndrome. (Genomics 2002; 80:311-318.)
  • Aberrant expression of the gene may play a role in diseases that exhibit motor neuron degeneration.
code
  • C79757
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