ZIC3
Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila) | |||||||||||
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Identifiers | |||||||||||
Symbols | ZIC3 ; HTX; HTX1; ZNF203 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 55742 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE ZIC3 207197 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
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]
References
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:10.1002/ajmg.1320560105. 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:10.1038/ng1293-403. 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:10.1038/ng1197-305. 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:10.1074/jbc.C000773200. 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:10.1073/pnas.242603899. 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:10.1242/dev.01041. 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:10.1038/sj.ejhg.5201213. 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:10.1101/gr.2596504. 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:10.1038/nature03440. 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:10.1093/hmg/ddl461. 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:10.1002/humu.20480. 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:10.1093/hmg/ddm106. PMID 17468179.
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