| Primary Identifier | MGI:1859158 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 54196 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase binding activity. Involved in MAPK cascade; cellular response to lipopolysaccharide; and positive regulation of polynucleotide adenylyltransferase activity. Located in nucleus. Part of ribonucleoprotein complex. Is expressed in central nervous system; sensory organ; and thymus. Used to study oculopharyngeal muscular dystrophy. Human ortholog(s) of this gene implicated in oculopharyngeal muscular dystrophy. Orthologous to human PABPN1 (poly(A) binding protein nuclear 1). PHENOTYPE: Homozygous KO and poly-alanine KI is embryonic lethal. Heterozygosity affects mitochondria and causes age- and muscle-specific muscle hypo- and hypertrophy. [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
