ZIC1

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq]

ZIC1

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).

Biological Process adult walking behavior Source:Ensembl
Biological Process brain development Source:UniProtKB1 Publication
Biological Process cell differentiation Source:UniProtKB-KW
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process hippocampus development Source:Ensembl
Biological Process inner ear morphogenesis Source:UniProtKB
Biological Process maintenance of cell number Source:Ensembl
Biological Process olfactory bulb development Source:Ensembl
Biological Process pattern specification process Source:UniProtKB
Biological Process positive regulation of DNA-templated transcription Source:UniProtKB
Biological Process positive regulation of protein import into nucleus Source:UniProtKB
Biological Process regulation of smoothened signaling pathway Source:UniProtKB
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process spinal cord development Source:Ensembl

Nucleus
Cytoplasm
Localizes in the cytoplasm in presence of MDFIC overexpression.

Craniosynostosis 6 (CRS6):
A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS):
A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present.