Disease: alzheimer's disease (PMID:22996644)
Dysfunction type: regulation
Description: 51A expression drives a splicing shift of SORL1 from the synthesis of the canonical long protein variant 1 to an alternatively spliced protein form. This process, resulting in a decreased synthesis of SORL1 variant 1, is associated with an impaired processing of APP, leading to increase of A formation.
Function Mechanism: splicing regulation (PMID:22996644)
Biological Process: pathogenic process