| Primary Identifier | MGI:1922022 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 74772 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity; phospholipid binding activity; and polyamine transmembrane transporter activity. Involved in several processes, including autophagosome-lysosome fusion; positive regulation of exosomal secretion; and regulation of glucosylceramidase activity. Located in neuron projection; neuronal cell body; and vesicle membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study Kufor-Rakeb syndrome. Human ortholog(s) of this gene implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia 78. Orthologous to human ATP13A2 (ATPase cation transporting 13A2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits. [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
