Target intelligence / Profile preview

Protocadherin gamma-A12 (PCDHGA12)

Target: PCDHGA12
Molecular classification: Cadherin superfamily, Protocadherin subfamily, Cell adhesion protein (calcium-dependent), Transmembrane protein

Overview

Protocadherin gamma-A12 is a member of the protocadherin gamma gene cluster—one of three related clusters expressed in humans, tandemly linked on chromosome five. This gene encodes a neural cadherin-like cell adhesion protein believed to play a critical role in the formation and maintenance of specific cell-cell connections in the brain. The protein is a potential calcium-dependent cell adhesion molecule, typically comprising six cadherin ectodomains and a transmembrane domain. The cytoplasmic region is conserved among cluster members, and alternative splicing has been described. The molecule is primarily expressed in neural tissues and is implicated in neurodevelopmental processes but is not presently considered a therapeutic target.

Other names: CDH21FIB3KIAA0588Protocadherin gamma-A12PCDH-gamma-A12Cadherin-21Fibroblast cadherin-3fibroblast cadherin FIB3

Mechanism of action

Not applicable; no drugs target this molecule.

Biological functions

Cell adhesion (particularly in the nervous system and brain)Establishment/maintenance of specific neuronal connectionsCalcium ion binding

Disease associations

Neurodevelopmental disorders (e.g., neurodevelopmental disorder with poor growth and skeletal anomalies)Ophthalmological disease (e.g., Doyne Honeycomb Retinal Dystrophy)

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