PCDHA2


Description

The PCDHA2 (protocadherin alpha 2) is a protein-coding gene located on chromosome 5.

Protocadherin alpha-2 is a protein encoded by the PCDHA2 gene in humans. It belongs to the protocadherin alpha gene cluster, one of three linked clusters on chromosome five with a unique organization similar to B-cell and T-cell receptor gene clusters. The alpha cluster has 15 cadherin genes related to mouse CNR genes, including 13 highly similar and 2 more distant coding sequences. It features 15 N-terminal exons (variable exons) followed by shared C-terminal exons (constant exons). 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 membrane proteins, likely crucial for establishing and maintaining specific cell-cell connections in the brain. Alternative splicing occurs, and additional variants are suggested, but their complete structures remain to be determined.

PCDHA2 is also known as PCDH-ALPHA2.

Associated Diseases


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