ZIC3
Sign in to saveAlso known as HTX, HTX1, VACTERLX, ZNF203, Zic family member 3
ZIC3 is a member of the Zinc finger of the cerebellum (ZIC) protein family.
Gene data
ZIC3- Name
- Zic family zinc finger 3
- Type
- protein-coding
- Chromosome
- X
- Aliases
- HTX, HTX1, VACTERLX, ZNF203
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].
via MyGene.info
Gene · Ensembl
Zic family zinc finger 3
- Symbol
- ZIC3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:137,563,314-137,577,691
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ZIC3 PDB 2EJ4.png
Show 5 more facts
- HomoloGene ID
- 55742
- exact match
- identifiers.org/ncbigene/7547
- genomic end
- 136659850
- genomic start
- 137566127
- cytogenetic location
- Xq26.3
via Wikidata · CC0
~2 min read
Article
3 sectionsContents
- Involvement in Wnt signalling
- References
- Further reading
ZIC3 is a member of the Zinc finger of the cerebellum (ZIC) protein family.
ZIC3 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. Correct function of this protein family in critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, mutation of ZIC3 is associated with heterotaxy, that is thought to occur due to the role of ZIC3 in initial left-right symmetry formation, which involves the maintaining redistributed Nodal after the asymmetry of the embryo is initially broken. Mutation of ZIC3 is also associated with various heart defects, such as heart looping, however these are thought to represent a mild form of heterotaxy. Mouse based studies have linked defective ZIC3 with neural tube defects (spina bifida and exencephaly) and skeletal defects as well indicated a role for Zic3 in neural crest specification. Both the left-right defects and the neural tube defects caused by loss of Zic3 have been linked to defective planar cell polarity.