| Primary Identifier | MGI:1277124 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 11886 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables N-acylsphingosine amidohydrolase activity. Involved in cellular response to tumor necrosis factor; regulation of programmed necrotic cell death; and sphingolipid metabolic process. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and respiratory system. Used to study Farber lipogranulomatosis. Human ortholog(s) of this gene implicated in Farber lipogranulomatosis; sphingolipidosis; and spinal muscular atrophy with progressive myoclonic epilepsy. Orthologous to human ASAH1 (N-acylsphingosine amidohydrolase 1). PHENOTYPE: Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology. [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
