Target intelligence / Profile preview

Protocadherin alpha-13 (PCDHA13)

Target
PCDHA13
Molecular classification
Cell adhesion protein, Cadherin superfamily, Type I transmembrane protein, Clustered protocadherin (alpha subfamily)
01

Overview

Protocadherin alpha-13 is a member of the protocadherin alpha gene cluster, located on chromosome 5, which encodes neural cadherin-like cell-adhesion proteins integral to the plasma membrane[1][6]. This protein is predominantly expressed in the central nervous system and is involved in calcium-dependent cell adhesion, likely playing a critical role in the establishment and function of specific neuronal connections and circuit assembly in the brain[1][2][4][6]. Like other clustered protocadherins, it features N-terminal variable exons encoding the extracellular cadherin domains and shared constant exons encoding the cytoplasmic domain[1][3]. It mediates homophilic cell-cell recognition and is important for neural development and synaptic specificity[2][4][6]. Mutations or dysregulation within the protocadherin alpha gene cluster have been linked to neural developmental diseases[1]. No clinically used drugs are currently known to target Protocadherin alpha-13[1].

Other names
Protocadherin alpha 13Protocadherin alpha-13PCDHA13CNRS5PCDH-alpha-13CNR5CRNR5CNRN5KIAA0345-like 1ortholog of mouse CNR5
02

Biological functions

Cell-cell adhesionEstablishment and maintenance of specific neuronal connectionsNeural circuit assembly
03

Disease associations

Oculopharyngodistal myopathy 1Hypoplastic left heart syndromeOther neurodevelopmental/neurological disorders (implied via family function)

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