| Primary Identifier | MGI:97309 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 380684 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development and postsynaptic modulation of chemical synaptic transmission. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in axon; neurofilament; and postsynaptic density. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport. [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
