| Primary Identifier | MGI:1924767 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 211978 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol-3-phosphate binding activity and protein kinase binding activity. Acts upstream of or within lysosome organization. Predicted to be located in early endosome; late endosome; and lysosome. Predicted to be active in centrosome and midbody. Is expressed in central nervous system; retina inner nuclear layer; and retina outer nuclear layer. Used to study hereditary spastic paraplegia 15. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 15. Orthologous to human ZFYVE26 (zinc finger FYVE-type containing 26). PHENOTYPE: Mice homozygous for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. [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
