Biology:Frizzled-4
Generic protein structure example |
Frizzled-4 (Fz-4) is a protein that in humans is encoded by the FZD4 gene.[1][2][3] Fz-4 has also been designated as CD344 (cluster of differentiation 344).
Function
This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Frizzled-4 is the only representative of frizzled family members that binds strongly an additional ligand Norrin that is functionally similar but structurally different from Wingless type proteins.[4] FZD4 signaling induced by Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence.[3]
See also
References
- ↑ "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochemical and Biophysical Research Communications 264 (3): 955–61. Nov 1999. doi:10.1006/bbrc.1999.1612. PMID 10544037.
- ↑ "Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q". American Journal of Human Genetics 74 (4): 721–30. Apr 2004. doi:10.1086/383202. PMID 15024691.
- ↑ 3.0 3.1 "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8322.
- ↑ "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair". Cell 116 (6): 883–895. March 2004. doi:10.1016/S0092-8674(04)00216-8. PMID 15035989.
Further reading
- "The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11". American Journal of Ophthalmology 113 (6): 712–3. Jun 1992. doi:10.1016/s0002-9394(14)74800-7. PMID 1598965.
- "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals". Proceedings of the National Academy of Sciences of the United States of America 95 (17): 10164–9. Aug 1998. doi:10.1073/pnas.95.17.10164. PMID 9707618. Bibcode: 1998PNAS...9510164T.
- "FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway". Biochemical and Biophysical Research Communications 282 (3): 750–6. Apr 2001. doi:10.1006/bbrc.2001.4634. PMID 11401527.
- "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Letters 520 (1–3): 97–101. Jun 2002. doi:10.1016/S0014-5793(02)02775-8. PMID 12044878.
- "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Letters 521 (1–3): 185–9. Jun 2002. doi:10.1016/S0014-5793(02)02831-4. PMID 12067714.
- "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nature Genetics 32 (2): 326–30. Oct 2002. doi:10.1038/ng957. PMID 12172548.
- "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4". Science 301 (5638): 1391–4. Sep 2003. doi:10.1126/science.1082808. PMID 12958364. Bibcode: 2003Sci...301.1391C.
- "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Molecular Vision 10: 37–42. Jan 2004. PMID 14737064.
- "MAGI-3 is involved in the regulation of the JNK signaling pathway as a scaffold protein for frizzled and Ltap". Oncogene 23 (36): 6023–30. Aug 2004. doi:10.1038/sj.onc.1207817. PMID 15195140.
- "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Investigative Ophthalmology & Visual Science 45 (7): 2083–90. Jul 2004. doi:10.1167/iovs.03-1044. PMID 15223780.
- "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genetics 25 (2): 81–90. Jun 2004. doi:10.1080/13816810490514270. PMID 15370539.
- "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". American Journal of Ophthalmology 138 (4): 670–1. Oct 2004. doi:10.1016/j.ajo.2004.05.001. PMID 15488808.
- "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes". Human Mutation 26 (2): 104–12. Aug 2005. doi:10.1002/humu.20191. PMID 15981244.
- "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Molecular Vision 12: 1086–92. 2006. PMID 17093393.
- "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biology 8: 12. 2007. doi:10.1186/1471-2121-8-12. PMID 17386109.
External links
- "Frizzled Receptors: FZD4". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. http://www.iuphar-db.org/GPCR/ReceptorDisplayForward?receptorID=3062.]
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Original source: https://en.wikipedia.org/wiki/Frizzled-4.
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