| Primary Identifier | MGI:96789 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 16889 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable sterol ester esterase activity. Acts upstream of or within several processes, including ATP metabolic process; hematopoietic or lymphoid organ development; and hemopoiesis. Is active in lysosome. Is expressed in several structures, including adrenal cortex zone; alimentary system; brain; hemolymphoid system; and metanephros. Used to study Wolman disease and lysosomal acid lipase deficiency. Human ortholog(s) of this gene implicated in Wolman disease and cholesterol ester storage disease. Orthologous to human LIPA (lipase A, lysosomal acid type). PHENOTYPE: Homozygous null mice show massive accumulation of triglycerides and cholesteryl esters in several organs, depletion of white and brown fat, hepatosplenomegaly, increased energy intake and plasma free fatty acid levels, insulin resistance, lung inflammation, alveolar destruction and premature death. [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
