ZIC4 Chromosome 3
Zic family zinc finger 4
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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
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS903837263 | Health Risk | Conflicting classifications of pathogenicity | — |