Target intelligence / Profile preview

Protocadherin gamma-A1 (PCDHGA1)

Target
PCDHGA1
Molecular classification
Cadherin, Cell adhesion molecule, Transmembrane protein, Other
01

Overview

Protocadherin gamma-A1 is a member of the protocadherin gamma gene cluster, which belongs to the larger cadherin superfamily of calcium-dependent cell adhesion proteins[1][3][4]. This protein is believed to play a crucial role in the establishment and maintenance of specific cell-cell connections in the brain[1][4]. Each protocadherin gamma protein contains six extracellular cadherin domains, a single transmembrane region, and a shared cytoplasmic domain encoded by constant exons in the gene cluster[1][3][4]. These proteins display isoform-specific homophilic binding that contributes to neuronal self-recognition and circuit assembly in the central nervous system[2][5]. The protocadherin gamma cluster shows a unique gene organization reminiscent of immunoglobulin genes, suggesting specialized mechanisms for regulation and generating considerable molecular diversity important for neural network function[1][3][5]. There are no reports of direct pharmacological targeting or approved therapeutics for PCDHGA1, and it is generally not considered a standard therapeutic target such as a receptor, enzyme, or transporter[1][3][4]. Defects in related genes have been implicated in some neurodevelopmental disorders and brain tumors, but current evidence does not designate PCDHGA1 as a common clinical biomarker, therapeutic target, or safety concern[1][4].

Other names
Protocadherin gamma subfamily A, 1PCDHGA1PCDH-gamma-A1PCDH-GAMMA-A1protocadherin gamma-A1PCDG1_HUMAN
02

Biological functions

Cell adhesionFormation and maintenance of neuronal cell-cell connectionsNeural developmentCalcium ion binding
03

Disease associations

Neurodevelopmental disorder with poor growth and skeletal anomaliesDiffuse astrocytoma, MYB- or MYBL1-alteredPotential role in other neurodevelopmental and neuropsychiatric disorders

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