Protocadherin alpha-3 (PCDHA3)

Protocadherin alpha-3 is a member of the protocadherin alpha gene cluster located on chromosome 5, comprising part of the cadherin superfamily of integral membrane proteins[1][2][4][7]. It features a unique genomic organization with tandem variable exons encoding extracellular cadherin domains and shared constant exons encoding a cytoplasmic domain[1][2][4]. Predominantly expressed in the nervous system, protocadherin alpha-3 is believed to play a key role in the formation, specificity, and maintenance of neuronal cell-cell connections, likely through calcium-dependent homophilic interactions[1][3][6]. Alternative splicing results in molecular diversity, though the full range of splice variants is not yet fully characterized[1][2]. Genetic studies implicate PCDHA3 in susceptibility to autism spectrum disorders and possibly other neurodevelopmental or neuropsychiatric conditions[7]. Currently, there are no known drugs directly targeting PCDHA3, and it is not yet an established biomarker for clinical use, though its genetic variants are under study for disease association[7][8].

Other names

Protocadherin alpha-3PCDHA3PCDH-alpha-3PCDH-ALPHA3KIAA0345-like 11