PCDHA3


Description

The PCDHA3 (protocadherin alpha 3) is a protein-coding gene located on chromosome 5.

The PCDHA3 gene encodes protocadherin alpha-3, a protein belonging to the protocadherin alpha gene cluster on chromosome 5. This cluster, similar to B-cell and T-cell receptor gene clusters, comprises 15 cadherin superfamily genes. These genes share a unique structure with 15 variable N-terminal exons encoding six cadherin ectodomains, followed by constant C-terminal exons encoding the cytoplasmic domain. These proteins, located in the cell membrane, are thought to be crucial for forming and maintaining specific cell-cell connections in the brain. Alternative splicing occurs, but the full nature of these variations is still being investigated.

PCDHA3 is also known as PCDH-ALPHA3.

Associated Diseases


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