FZD3 Chromosome 8
Frizzled class receptor 3
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What This Gene Does
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. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
G protein-coupled receptors, Class F frizzled
Locus Type
gene with protein product
Location
8p21.1
Ensembl
ENSG00000104290
Associated Conditions (7)
Corpus callosum
agenesis of
Hydrocephalus
Arthrogryposis multiplex congenita
Multicystic kidney dysplasia
Congenital cerebellar hypoplasia
Colorectal cancer
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1563406024 | Health Risk | Likely pathogenic | Corpus callosum, agenesis of, Hydrocephalus |
| RS765036679 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |