NCIt synonyms : HTX1; ZIC3; HTX; ZNF203; Zic Family Member 3 Heterotaxy 1 (Odd-Paired Homolog, Drosophila) wt Allele;
NCIt definition : Human ZIC3 wild-type allele is located in the vicinity of Xq26.2 and is approximately
11 kb in length. This allele, which encodes zinc finger protein ZIC 3, plays roles
in transcription, cardiac and neural development and left-right specification. Mutations
are associated with X-linked heterotaxy.;
NCIt note : Screening of a cohort of patients with sporadic heterotaxy indicated that ZIC3 mutations
account for approximately 1% of affected individuals.;