| Primary Identifier | MGI:1098827 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 52250 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable microtubule binding activity and olfactory receptor binding activity. Involved in regulation of intracellular transport. Located in endoplasmic reticulum membrane and endoplasmic reticulum tubular network. Is expressed in diaphragm; nervous system; neural retina; and skeletal musculature. Used to study hereditary spastic paraplegia 31. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 12; autosomal recessive distal hereditary motor neuronopathy 6; and hereditary spastic paraplegia 31. Orthologous to human REEP1 (receptor accessory protein 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor 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
