| Primary Identifier | MGI:96748 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 16784 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein domain specific binding activity. Involved in several processes, including autophagosome maturation; protein stabilization; and protein targeting to lysosome involved in chaperone-mediated autophagy. Acts upstream of or within muscle cell cellular homeostasis. Located in bounding membrane of organelle. Is active in lysosome. Is expressed in several structures, including central nervous system; egg cylinder; heart valve; oocyte; and sensory organ. Used to study Danon disease. Human ortholog(s) of this gene implicated in Danon disease and hypertrophic cardiomyopathy. Orthologous to human LAMP2 (lysosomal associated membrane protein 2). PHENOTYPE: The majority of hemizygous or homozygous mutant mice die prematurely displaying cardiomyopathy and accumulation of autophagic vacuoles in several tissues including liver, pancreas, spleen, kidney and skeletal and cardiac muscle. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
