PCDH20
Description
The PCDH20 (protocadherin 20) is a protein-coding gene located on chromosome 13.
Protocadherin-20 is a protein encoded by the PCDH20 gene in humans. It belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The protein contains 6 extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail distinct from classical cadherins. Its specific function is unknown, but it is thought to be involved in the formation and function of cell-cell connections in the brain.
PCDH20 is also known as PCDH13.
Associated Diseases
- intellectual disability, autosomal dominant 50
- chorea, childhood-onset, with psychomotor retardation
- Smith-Magenis syndrome
- hypertrophic cardiomyopathy 1
- cancer
- breast cancer
- type 2 diabetes mellitus
- type 1 diabetes mellitus
