ZIC4 Chromosome 3

Zic family zinc finger 4
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZIC family zinc fingers"
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000174963
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS903837263 Health Risk Conflicting classifications of pathogenicity
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