C9orf72

Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and regulation of synaptic vesicle cycle. Located in several cellular components, including extracellular space; perikaryon; and presynapse. Is active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynapse. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Jul 2025]

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse C9orf72 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.

Biological processes and signaling networks where the C9orf72 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.

Describes the biological processes, cellular components, and molecular functions associated with the mouse C9orf72 gene, providing context for its role in the cell.