Gene: PRSS23

Alternate names for this Gene: SIG13|SPUVE|ZSIG13

Gene Summary: This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: serine protease 23

Type of Gene: protein-coding

Gene: FZD4

Alternate names for this Gene: CD344|EVR1|FEVR|FZD4S|Fz-4|Fz4|FzE4|GPCR|hFz4

Gene Summary: 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. 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: frizzled class receptor 4

Type of Gene: protein-coding

rs80358284 in PRSS23;FZD4 gene and Exudative vitreoretinopathy 1 PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PMID 19172507 2009 Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees.

PMID 19324841 2009 Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

PMID 17093393 2006 Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

PMID 15223780 2004 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.

PMID 15488808 2004 Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.

PMID 17955262 2008 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

PMID 15981244 2005 Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.

PMID 15370539 2004 Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

PMID 15733276 2005 Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.

PMID 12172548 2002 Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.

PMID 15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

PMID 14507768 2003 Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.

rs80358284 in PRSS23;FZD4 gene and Familial Exudative Vitreoretinopathy PMID 24744206 2014 Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

PMID 20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

PMID 15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.

PMID 20938005 2010 Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

PMID 27316669 2016 Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.

PMID 25711638 2015 Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.

PMID 14507768 2003 Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.