Aliases for BHLHE23 Gene
External Ids for BHLHE23 Gene
Previous HGNC Symbols for BHLHE23 Gene
Previous GeneCards Identifiers for BHLHE23 Gene
This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]
GeneCards Summary for BHLHE23 Gene
BHLHE23 (Basic Helix-Loop-Helix Family Member E23) is a Protein Coding gene. Diseases associated with BHLHE23 include Congenital Stationary Night Blindness. GO annotations related to this gene include protein dimerization activity. An important paralog of this gene is OLIG1.
UniProtKB/Swiss-Prot for BHLHE23 Gene
May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation (By similarity).