Danon disease is a genetic disease caused by genetic mutations in the LAMP2 (Lysosome Associated Membrane Protein 2) gene. Nearly all mutations reported so far are predicted to damage the LAMP2 gene in a way that makes it difficult for the LAMP2 gene to produce a normal amount of its protein product, the LAMP2 protein. Danon disease is sometimes referred to as ‘LAMP2 protein deficiency’ due to the absent or severely reduced amount of LAMP2 protein in patients.
LAMP2