| Primary Identifier | MGI:104560 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18195 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity; protein kinase binding activity; and syntaxin-1 binding activity. Acts upstream of or within potassium ion transport. Located in myelin sheath. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 96. Orthologous to human NSF (N-ethylmaleimide sensitive factor, vesicle fusing ATPase). PHENOTYPE: Homozygous null mice show early embryonic lethality. Heterozygotes show abnormalities in sociability, communication, repetitive behavior and anxiety and impaired postsynaptic density and long-term depression in hippocampal CA1. [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
