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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-02-2013
Symbol HTX1
Location Xq26.2
Name abnormal left-right axis with visceral heterotaxy (situs ambiguus), 1
Other name(s)
  • dextrocardia with other cardiac malformations laterality, X-linked
  • situs inversus, complex cardiac defects and splenic defect
  • Corresponding gene ZIC3
    Other symbol(s) HTX
    Main clinical features
  • cardiac and splenic defects, gastrointestinal malrotation cleft lip, defects of the lumbosacral spine (neural tube defect) and hind-gutwith an uncomplete penetrance among males
  • also expressed in heterozygous female (ZIC3 defect)
  • Genetic determination sex linked
    Related entries . includes isolated d-transposition of the great arteries and double outlet right ventricle (PMID: 23427188)
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name zinc finger protein of the cerebellum (ZIC3)
    Remark(s) mutations occurring between amino acids 268-323 resulted in alteration of subcellular localization, leading to the hypothesis that mutations within this region disrupt cellular trafficking