DISEASES

Disease-gene associations mined from literature

Literature associating ZIC1 and blepharophimosis, ptosis, and epicanthus inversus syndrome

ZIC1 [ENSP00000282928]

Zinc finger protein of the cerebellum 1; Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally- located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'- TGGGTGGTC-3' (By similarity); Zinc fingers C2H2-type

Synonyms:  ZIC1,  LOC440982,  ZIC1p,  hZIC1,  Q15915 ...

Linkouts:  STRING  Pharos  UniProt  OMIM