CDH4 Chromosome 20
Cadherin 4
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What This Gene Does
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
Type I classical cadherins
Locus Type
gene with protein product
Location
20q13.33
Ensembl
ENSG00000179242
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751782763 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765815715 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |