ZIC3
From Wikipedia, the free encyclopedia
|
Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)
|
||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | ZIC3; HTX; HTX1; ZNF203 | |||||||||||||
| External IDs | OMIM: 300265 MGI: 106676 HomoloGene: 55742 | |||||||||||||
|
||||||||||||||
| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 7547 | 22773 | ||||||||||||
| Ensembl | ENSG00000156925 | ENSMUSG00000067860 | ||||||||||||
| Uniprot | O60481 | Q3UYV1 | ||||||||||||
| Refseq | NM_003413 (mRNA) NP_003404 (protein) |
NM_009575 (mRNA) NP_033601 (protein) |
||||||||||||
| Location | Chr X: 136.48 - 136.49 Mb | Chr X: 54.38 - 54.39 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila), also known as ZIC3, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- Alonso S, Pierpont ME, Radtke W, et al. (1995). "Heterotaxia syndrome and autosomal dominant inheritance.". Am. J. Med. Genet. 56 (1): 12-5. doi:. PMID 7747776.
- Casey B, Devoto M, Jones KL, Ballabio A (1994). "Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.". Nat. Genet. 5 (4): 403-7. doi:. PMID 8298651.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791-806. PMID 8889548.
- Gebbia M, Ferrero GB, Pilia G, et al. (1997). "X-linked situs abnormalities result from mutations in ZIC3.". Nat. Genet. 17 (3): 305-8. doi:. PMID 9354794.
- Klootwijk R, Franke B, van der Zee CE, et al. (2000). "A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.". Hum. Mol. Genet. 9 (11): 1615-22. PMID 10861288.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863.
- Koyabu Y, Nakata K, Mizugishi K, et al. (2001). "Physical and functional interactions between Zic and Gli proteins.". J. Biol. Chem. 276 (10): 6889-92. doi:. PMID 11238441.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:. PMID 12477932.
- Weber JR, Sokol SY (2004). "Identification of a phylogenetically conserved activin-responsive enhancer in the Zic3 gene.". Mech. Dev. 120 (8): 955-64. PMID 12963115.
- Ware SM, Peng J, Zhu L, et al. (2004). "Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.". Am. J. Hum. Genet. 74 (1): 93-105. PMID 14681828.
- Zhang J, Jin Z, Bao ZZ (2004). "Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection.". Development 131 (7): 1553-62. doi:. PMID 14985256.
- Fritz B, Kunz J, Knudsen GP, et al. (2005). "Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?". Eur. J. Hum. Genet. 13 (1): 34-40. doi:. PMID 15470371.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:. PMID 15489334.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325-37. doi:. PMID 15772651.
- Bedard JE, Purnell JD, Ware SM (2007). "Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.". Hum. Mol. Genet. 16 (2): 187-98. doi:. PMID 17185387.
- Chhin B, Hatayama M, Bozon D, et al. (2007). "Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.". Hum. Mutat. 28 (6): 563-70. doi:. PMID 17295247.
- Zhu L, Harutyunyan KG, Peng JL, et al. (2007). "Identification of a novel role of ZIC3 in regulating cardiac development.". Hum. Mol. Genet. 16 (14): 1649-60. doi:. PMID 17468179.

