DISEASES

Disease-gene associations mined from literature

Literature associating HEYL and bicuspid aortic valve disease

HEYL [ENSP00000361943]

Hairy/enhancer-of-split related with YRPW motif-like protein; Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.

Synonyms:  HEYL,  Q9NQ87,  Q9NQ87p,  hQ9NQ87,  26508 ...

Linkouts:  STRING  Pharos  UniProt  OMIM