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 7.0.0) Predicted to enable palmitoyl hydrolase activity and thiolester hydrolase activity. Predicted to be active in 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] |