| Primary Identifier | MGI:1924908 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 231855 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to be involved in double-strand break repair via homologous recombination and endosomal transport. Predicted to act upstream of or within DNA repair and protein transport. Predicted to be located in cytoplasm and nuclear speck. Used to study hereditary spastic paraplegia 48. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia and hereditary spastic paraplegia 48. Orthologous to human AP5Z1 (adaptor related protein complex 5 subunit zeta 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit late-onset gait abnormalities, axon degeneration in the corticospinal tract, altered Golgi apparatus morphology, and impaired autophagy with an increase of autophagosomes and autolysosomes and accumulation of intracellular waste in neurons. [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
