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Protein Page:
ZIC3 (human)

Overview
ZIC3 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'. Defects in ZIC3 are the cause of visceral heterotaxy X- linked type 1 (HTX1). A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy X- linked type 1 include dextrocardia, corrected transposition of great arteries, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis, situs inversus viscerum, and asplenia and/or polysplenia. Defects in ZIC3 are a cause of VACTERL association X- linked with or without hydrocephalus (VACTERLX). A syndrome characterized by vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (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. Belongs to the GLI C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: C2H2-type zinc finger protein; DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: Xq26.2
Cellular Component: cytoplasm; nucleoplasm; nucleus
Molecular Function: protein binding; sequence-specific DNA binding; transcription factor activity
Biological Process: determination of left/right symmetry; heart looping; lung development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; somatic stem cell maintenance
Disease: Heterotaxy, Visceral, 1, X-linked; Vacterl Association, X-linked, With Or Without Hydrocephalus
Reference #:  O60481 (UniProtKB)
Alt. Names/Synonyms: ZIC3; Zinc finger protein of the cerebellum 3; Zinc finger protein ZIC 3
Gene Symbols: ZIC3
Molecular weight: 50,569 Da
Basal Isoelectric point: 8.89  Predict pI for various phosphorylation states
Select Structure to View Below

ZIC3

Protein Structure Not Found.
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