| Primary Identifier | MGI:1336993 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 108011 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cargo adaptor activity. Predicted to act upstream of or within intracellular protein transport and vesicle-mediated transport. Predicted to be located in trans-Golgi network. Predicted to be part of AP-4 adaptor complex. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and hemolymphoid system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [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
