Protocadherin alpha-12 (PCDHA12)

Protocadherin alpha-12 (PCDHA12) is a member of the protocadherin alpha gene cluster, which belongs to the cadherin superfamily of neural cell adhesion molecules. These proteins are integral plasma membrane components, most likely playing critical roles in establishing and maintaining specific cell-cell connections in the brain, especially in neural circuit development. The gene exhibits an unusual genomic organization similar to immune receptor gene clusters, encoding extracellular cadherin domains that mediate homophilic (isoform-specific) and heterophilic cell–cell recognition in the nervous system. Mutations or alteration in PCDHA12 have been associated with autism spectrum disorder and potentially other neurodevelopmental conditions. There is no evidence from available data to classify PCDHA12 as a direct therapeutic target (such as a druggable receptor or enzyme), nor are there any known drugs, biomarkers, or safety issues directly linked to this molecule, though it may be relevant as a biomarker or for genetic research in neurodevelopmental diseases[1][3][2][4][5].

Other names

Protocadherin alpha-12PCDHA12PCDH-alpha-12PCDH-ALPHA12KIAA0345-like 2PCDAC_HUMAN