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Title: Fzd4  
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Subject: CD97, LRP5, ABCD syndrome, Leukocyte adhesion deficiency-1, Hyper-IgM syndrome type 3
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Frizzled class receptor 4
Symbols  ; CD344; EVR1; FEVR; FZD4S; Fz-4; Fz4; FzE4; GPCR; hFz4
External IDs IUPHAR: GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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


  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.  
  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.  
  3. ^ a b "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)". 

Further reading

External links

  • "4"Frizzled Receptors: FZD. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. ]
  • GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant

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