Lysosome-associated membrane protein 2B (LAMP-2B)

Lysosome-associated membrane protein 2B (LAMP-2B) is an isoform of the LAMP2 gene product, predominantly expressed in heart and skeletal muscle tissues, where it is required for the fusion of autophagosomes with lysosomes—a critical step in autophagic degradation and tissue homeostasis. Genetic defects in LAMP2, especially those impacting the LAMP-2B isoform, cause Danon disease, an X-linked disorder presenting with cardiomyopathy, skeletal myopathy, and intellectual disability. LAMP-2B is a validated gene therapy target; AAV9-mediated delivery of a functional LAMP2B gene (e.g., RP-A501) is under investigation in clinical trials to restore lysosomal function, improve cardiac structure and function, and halt disease progression in Danon disease patients.

Other names

LAMP2BLAMP-2 isoform BCD107bMac-3

Gene replacement therapy using AAV9-LAMP2B: Delivers a functional copy of the LAMP2B gene to restore normal protein expression in deficient cells, aiming to restore cardiac and skeletal muscle autophagy and lysosomal function