PCDHA6


Description

The PCDHA6 (protocadherin alpha 6) is a protein-coding gene located on chromosome 5.

Protocadherin alpha-6 is a protein encoded by the PCDHA6 gene in humans. This gene belongs to the protocadherin alpha gene cluster on chromosome five, which has a unique organization similar to B-cell and T-cell receptor gene clusters. The alpha cluster contains 15 cadherin superfamily genes related to mouse CNR genes, including 13 highly similar and 2 more distantly related coding sequences. The cluster features a tandem array of 15 N-terminal exons (variable exons) followed by shared C-terminal exons (constant exons) for all genes. Each N-terminal exon encodes six cadherin ectodomains, while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that likely play a crucial role in establishing and maintaining specific cell-cell connections in the brain. Alternative splicing has been observed, and additional variants are suggested but their full-length nature remains undetermined.

PCDHA6 is also known as CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6.

Associated Diseases



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