| Primary Identifier | MGI:1921303 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 74053 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase binding activity; PDZ domain binding activity; and ionotropic glutamate receptor binding activity. Involved in neurotransmitter receptor transport, endosome to postsynaptic membrane and vesicle-mediated transport in synapse. Acts upstream of or within protein localization. Located in membrane raft; neuron projection; and plasma membrane. Is active in glutamatergic synapse. Is expressed in several structures, including back skin; metanephros; neural retina; and telencephalon. Used to study Fraser syndrome; clubfoot; and recessive dystrophic epidermolysis bullosa. Human ortholog(s) of this gene implicated in Fraser syndrome 3. Orthologous to human GRIP1 (glutamate receptor interacting protein 1). PHENOTYPE: Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions. [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
