PCDH1 Chromosome 5
Protocadherin 1
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What This Gene Does
This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Non-clustered protocadherins
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000156453
Associated Conditions (3)
Gastric cancer
Lung cancer
Esophageal atresia/tracheoesophageal fistula
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149703720 | Health Risk | Conflicting classifications of pathogenicity | Gastric cancer, Lung cancer, Gastric cancer |
| RS1753000062 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |