Gene: ZIC3

Alternate names for this Gene: HTX|HTX1|VACTERLX|ZNF203

Gene Summary: This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs.

Gene is located in Chromosome: X

Location in Chromosome : Xq26.3

Description of this Gene: Zic family member 3

Type of Gene: protein-coding

rs104894961 in ZIC3 gene and HETEROTAXY, VISCERAL, 1, X-LINKED PMID 18716025 2008 Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.

PMID 14681828 2004 Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

PMID 17295247 2007 Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.

PMID 9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.

PMID 17764085 2008 Characterization of the interactions of human ZIC3 mutants with GLI3.

PMID 24123890 2014 Genetic and functional analyses of ZIC3 variants in congenital heart disease.

rs147232392 in ZIC3 gene and VACTERL Association With Hydrocephalus PMID 2629409 1990 [Characteristics of the formation of conditioned responses in the isolated LPa3 neuron of the edible snail].