| Primary Identifier | MGI:99954 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 20589 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity; nucleic acid binding activity; and ribosome binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II; neuromuscular process; and spinal cord motor neuron differentiation. Located in several cellular components, including growth cone; neuronal cell body; and perinuclear region of cytoplasm. Part of ribonucleoprotein complex. Is expressed in several structures, including genitourinary system; heart; liver; lung; and nervous system. Used to study Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and autosomal recessive distal hereditary motor neuronopathy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2). PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, progressive limb muscle atrophy, decreased grip strength, severe motor neuron and axonal degeneration, dilated cardiomyopathy, myocardial fiber necrosis, increased heart rate variability, systolic dysfunction and respiratory failure. [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
