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FZD4

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Identifiers
SymbolsFZD4 ; CD344; EVR1; FEVR; FZD4S; Fz-4; Fz4; FzE4; GPCR; hFz4
External IDsOMIM604579 MGI108520 HomoloGene7325 IUPHAR: 232 GeneCards: FZD4 Gene
RNA expression pattern
File:PBB GE FZD4 218665 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez832214366
EnsemblENSG00000174804ENSMUSG00000049791
UniProtQ9ULV1Q61088
RefSeq (mRNA)NM_012193NM_008055
RefSeq (protein)NP_036325NP_032081
Location (UCSC)Chr 11:
86.66 – 86.67 Mb
Chr 7:
89.4 – 89.41 Mb
PubMed search[1][2]

Frizzled-4 is a protein that in humans is encoded by the FZD4 gene.[1][2][3] FZD4 has also been designated as CD344 (cluster of differentiation 344).

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. 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

  1. ^ Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Dec 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochem Biophys Res Commun 264 (3): 955–61. PMID 10544037. doi:10.1006/bbrc.1999.1612. 
  2. ^ Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF (Mar 2004). "Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q". Am J Hum Genet 74 (4): 721–30. PMC 1181948. PMID 15024691. doi:10.1086/383202. 
  3. ^ a b "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)". 


Further reading

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External links


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