Zic family member 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Heterotaxy, visceral, X-linked
  • VACTERL association with hydrocephaly, X-linked

From UniProt:

VACTERL association X-linked with or without hydrocephalus (VACTERLX): A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement. [MIM:314390]

Congenital heart defects, multiple types, 1, X-linked (CHTD1): A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. [MIM:306955]

Heterotaxy, visceral, 1, X-linked (HTX1): A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with variety of congenital defects including cardiac malformations. [MIM:306955]

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2

Molecular Location: base pairs 137,566,187 to 137,577,691 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq26.2, which is the long (q) arm of the X chromosome at position 26.2
  • HTX
  • HTX1
  • ZNF203