Protocadherin Alpha 8 (PCDHa8)

PCDHA8 is 1 of 15 tandemly arranged genes within the PCDHA gene cluster on chromosome 5q31. The 15 PCDHA genes function as 'variable' exons that are individually spliced to a downstream constant region to form distinct PCDHA transcripts. By genomic sequence analysis, Wu et al. (2001) mapped the PCDHA8 gene to chromosome 5q31. They localized the mouse PCDHA genes to chromosome 18c.

Noonan et al. (2003) identified a 16.7-kb deletion within the PCDHA gene cluster that truncated the PCDHA8 gene and completely removed the PCDHA9 and PCDHA10 genes. This deletion appeared in 'normal' individuals from multiple populations, suggesting that a reduction in protocadherin gene number is not obviously deleterious.