APBB1 is an important regulatory factor during cellular response to nicotinic stimulation and in the APP nuclear signaling process (Gutala et al. 2006). The existence of alternative splicing within APBB1 suggests the presence of various protein isoforms of this gene (Wiley et al. 2007). This is supported by a study reporting that a polymorphism in intron 13 of APBB1 is associated with AD that alters the splicing of the transcript (Hu et al. 2002). This suggests that the APBB1 SNPs associated with ND are likely important in the regulation of alternative splicing of APBB1, and thereby altering the expression of the isoforms, although they are all located in the introns of the gene.
