PCDHB16


Description

The PCDHB16 (protocadherin beta 16) is a protein-coding gene located on chromosome 5.

Protocadherin beta-16 is a protein encoded by the PCDHB16 gene in humans. This gene belongs to the protocadherin beta gene cluster, one of three related clusters found on chromosome five. These clusters have an unusual genomic structure similar to B-cell and T-cell receptor gene clusters. The beta cluster comprises 16 genes and 3 pseudogenes, each encoding six extracellular cadherin domains and a cytoplasmic tail distinct from other cadherin superfamily members. The extracellular domains interact in a homophilic manner to define specific cell-cell connections. Unlike the alpha and gamma clusters, these gene transcripts consist of a single large exon, lacking common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. While their specific functions remain unclear, they likely play a crucial role in establishing and maintaining specific neural connections.

PCDHB16 is also known as ME1, PCDH-BETA16, PCDH3X, PCDHB8a.

Associated Diseases



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