| 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 7.0.0) Enables RNA polymerase binding activity. Involved in MAPK cascade and cellular response to lipopolysaccharide. 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
