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ZIC2
Anti-ZIC2 Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
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.
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Microglial cells, Astrocytes, Muller glia cells, Cone photoreceptor cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (AF22, HDLM-2, HEK93, NTERA-2, SCLC-21H)
Interaction
Interacts with RNF180. Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5); the interaction reduces its transcriptional activity. Interacts with GLI1 and GLI2 (By similarity). Interacts (via C2H2-type domain 3) with DHX9 (PubMed:17251188).
Molecular function
Activator, Developmental protein, DNA-binding, Repressor
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