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. Expansion of an alanine repeat in the C-terminus of the encoded protein and other 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 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ZIC2-20-RE | 20 (40 μL) | 200 μL |  |
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| ZIC2-20-OR | 20 (40 μL) | 200 μL |  |
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| ZIC2-20-GO | 20 (40 μL) | 200 μL |  |
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| ZIC2-20-GR | 20 (40 μL) | 200 μL |  |
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| ZIC2-20-AQ | 20 (40 μL) | 200 μL |  |
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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. Expansion of an alanine repeat in the C-terminus of the encoded protein and other 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 2016]
Gene Symbol : ZIC2
Gene Name : Zic family member 2
Chromosome : CHR 13: 999,817,71-999,867,64
Locus : 13q32.3
Alt. Genes : SUGP2
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