ZIC2 Antibody – Goat Polyclonal

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2008]

ZIC2: Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos. Defects in ZIC2 are a cause of holoprosencephaly type 5 (HPE5). A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Although severe facial anomalies are common in HPE, patients with ZINC2 mutations have relatively normal faces. Belongs to the GLI C2H2-type zinc-finger protein family.

Protein type: C2H2-type zinc finger protein; DNA-binding

Chromosomal Location of Human Ortholog: 13q32

Cellular Component: cytoplasm; nucleus

Molecular Function: chromatin DNA binding; DNA binding; metal ion binding; transcription factor activity

Biological Process: brain development; cell differentiation; negative regulation of transcription, DNA-dependent; positive regulation of transcription factor activity; positive regulation of transcription, DNA-dependent; transcription, DNA-dependent; visual perception

Disease: Holoprosencephaly 5