| Primary Identifier | MGI:1860075 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 54397 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable palmitoyl-(protein) hydrolase activity. Predicted to be involved in macromolecule depalmitoylation. Predicted to be active in extracellular region and lysosome. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and respiratory system. Used to study neuronal ceroid lipofuscinosis. Orthologous to human PPT2 (palmitoyl-protein thioesterase 2). PHENOTYPE: Homozygous null mutants show autofluorescent storage material in brain, abnormal clasping behavior, spasticity, ataxia and increased adult mortality. In addition, lipofuscin pigments in pancreas, bone marrow histiocytosis and splenomegaly are observed. [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
