| Primary Identifier | MGI:2442253 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 211286 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables long-chain fatty acyl-CoA hydrolase activity. Acts upstream of or within lysosome organization and visual perception. Located in lysosome and vacuolar lumen. Is expressed in several structures, including central nervous system; genitourinary system; liver; sensory organ; and spleen. Used to study neuronal ceroid lipofuscinosis 5. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 5. Orthologous to human CLN5 (CLN5 intracellular trafficking protein). PHENOTYPE: Homozygous mutants showed loss of vision and accumulation of autofluorescent storage material in the central nervous system. Loss of a subset of GABAergic interneurons was seen in several brain areas. [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
