DISEASES

Disease-gene associations mined from literature

Literature associating BHLHE23 and syndromic X-linked intellectual disability 5

BHLHE23 [ENSP00000480998]

Class E basic helix-loop-helix protein 23; 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).

Synonyms:  BHLHE23,  BHLHE23p,  hBHLHE23,  A0A087WXG3,  Q8NDY6 ...

Linkouts:  STRING  Pharos  UniProt