Gene: FZD6

Alternate names for this Gene: FZ-6|FZ6|HFZ6|NDNC1|NDNC10

Gene Summary: This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.3

Description of this Gene: frizzled class receptor 6

Type of Gene: protein-coding

rs786205672 in FZD6 gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.

rs151339003 in FZD6 gene and NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 PMID 21665003 2011 Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.