PCDHA9
Description
The PCDHA9 (protocadherin alpha 9) is a protein-coding gene located on chromosome 5.
PCDHA9 is a gene that encodes a protein called protocadherin alpha-9. It belongs to a family of genes known as the protocadherin alpha gene cluster, located on chromosome 5. This cluster contains 15 genes that are very similar to each other and encode proteins that play a role in cell-cell connections, particularly in the brain. Each gene has a unique N-terminal region that encodes six cadherin ectodomains, which are involved in binding to other cells. The genes also share a common C-terminal region that encodes the cytoplasmic domain, which interacts with other proteins inside the cell. PCDHA9, like other members of the alpha cluster, likely plays an important role in establishing and maintaining specific connections between neurons, which are essential for proper brain function. Alternative splicing can occur, meaning that different versions of the PCDHA9 protein can be produced, but the full extent of this is not yet known.
PCDHA9 is also known as PCDH-ALPHA9.
Associated Diseases
- prostate cancer
- Hirschsprung disease
- refractive error
- hypoplastic left heart syndrome
- ventricular septal defect
- type 2 diabetes mellitus
