CDH5 Chromosome 16

Cadherin 5
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"CD molecules|Type II classical cadherins"
Locus Type
gene with protein product
Location
16q21
Ensembl
ENSG00000179776
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS143548008 Health Risk Conflicting classifications of pathogenicity
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