PCDHB12


Description

The PCDHB12 (protocadherin beta 12) is a protein-coding gene located on chromosome 5.

Protocadherin beta-12 is a protein encoded by the PCDHB12 gene in humans. This gene belongs to the protocadherin beta gene cluster, one of three related gene clusters on chromosome five. These clusters have a unique genomic structure, similar to B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that differs from other cadherins. The extracellular domains interact homophilically to establish specific cell-cell connections. Unlike the alpha and gamma clusters, transcripts from these genes are made up of a single large exon, lacking shared 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are not completely understood, but they likely play a critical role in establishing and maintaining specific neural connections.

PCDHB12 is also known as PCDH-BETA12.

Associated Diseases



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