PCDH1 Gene: Protocadherin 1 Function, Mutations, and Disease Associations

PCDH1 (protocadherin 1) is a member of the cadherin superfamily of calcium-dependent cell adhesion molecules. It encodes a non-clustered protocadherin with 7 extracellular cadherin repeats, a transmembrane domain, and a cytoplasmic tail. PCDH1 is expressed in multiple tissues including lung, brain, and kidney, and plays a role in cell-cell adhesion, neuronal development, and airway epithelial integrity. Genetic variants in PCDH1 have been associated with asthma and bronchial hyperresponsiveness.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Cadherin signaling pathway

• Cell adhesion molecules (CAMs)

• Wnt signaling pathway (potential)

Protocadherin 1 is a 1067-amino acid transmembrane protein belonging to the cadherin superfamily. It contains 7 extracellular cadherin repeats, a single transmembrane domain, and a cytoplasmic region with conserved motifs. The protein mediates homophilic cell-cell adhesion in a calcium-dependent manner. PCDH1 is expressed in airway epithelium, where it contributes to barrier integrity, and in neural tissues where it may influence synaptic development. Alternative splicing generates multiple isoforms.