Gene Symbol | ZIC3 |
Entrez Gene ID | 7547 |
Full Name | Zic family member 3 |
Synonyms | HTX,HTX1,VACTERLX,ZNF203 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Heterotaxy, visceral, 1, X-linked 306955 (3); Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3); VACTERL association, X-linked, 314390 (3) |