| Primary Identifier | MGI:107931 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18412 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including ionotropic glutamate receptor binding activity; modification-dependent protein binding activity; and molecular condensate scaffold activity. Involved in several processes, including aggrephagy; brown fat cell proliferation; and positive regulation of long-term synaptic potentiation. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in several cellular components, including aggresome; sperm midpiece; and vacuole. Is active in intracellular membraneless organelle. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Paget's disease of bone. Human ortholog(s) of this gene implicated in Paget's disease of bone; Paget's disease of bone 3; distal myopathy with rimmed vacuoles; frontotemporal dementia and/or amyotrophic lateral sclerosis 3; and neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset. Orthologous to human SQSTM1 (sequestosome 1). PHENOTYPE: Mice homozygous for one knock-out allele exhibit impaired osteoclastogenesis in response to osteoclastogenic factors. Mice homozygous and heterozygous for a knock-in allele exhibit osteolytic lesion with increased bone formation, mineral apposition rate,and osteoclast numbers. Heterozygosity for the hyperactivating p.S351E mutation leads to hyperkeratosis in stomach and esophagus and, consequently, malnutrition, dehydration and severe growth retardation. [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
