| Primary Identifier | MGI:1336194 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12751 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables tripeptidyl-peptidase activity. Acts upstream of or within lysosomal protein catabolic process; lysosome organization; and neuromuscular process controlling balance. Located in lysosome. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study neuronal ceroid lipofuscinosis 2. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 7 and neuronal ceroid lipofuscinosis 2. Orthologous to human TPP1 (tripeptidyl peptidase 1). PHENOTYPE: Mice homozygous for targeted mutations exhibit progressive motor defects, reduced lifespan, and respiratory difficulty. One mutation also shows extensive neuronal degeneration and an accumulation of lysosomal storage material. Mice homozygous for a different allele exhibit prenatal lethality. [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
