Primary Identifier | MGI:1353633 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 233908 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables mRNA 3'-UTR binding activity. Acts upstream of or within RNA splicing. Located in cytoplasm and nucleus. Is active in several cellular components, including GABA-ergic synapse; postsynaptic cytosol; and presynaptic cytosol. Is expressed in several structures, including branchial arch; central nervous system; eye; genitourinary system; and tooth. Used to study amyotrophic lateral sclerosis type 6. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 6; essential tremor 4; liposarcoma; and neurodegenerative disease. Orthologous to human FUS (FUS RNA binding protein). PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired lymphocyte development, chromosomal instability, increased cellular radiation sensitivity, high neonatal mortality, and male sterility associated with lack of chromosomal pairing. [provided by MGI curators] |