| Primary Identifier | MGI:104557 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 110651 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity and protein serine/threonine kinase activity. Involved in response to lipopolysaccharide and toll-like receptor signaling pathway. Predicted to be located in cytosol and nucleolus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including alimentary system; blastocyst; branchial arch; central nervous system; and dorsal root ganglion. Used to study Coffin-Lowry syndrome. Human ortholog(s) of this gene implicated in Coffin-Lowry syndrome; intellectual disability; and non-syndromic X-linked intellectual disability 19. Orthologous to human RPS6KA3 (ribosomal protein S6 kinase A3). PHENOTYPE: Homozygotes/hemizygotes are a model for Coffin-Lowry Syndrome. One allele shows impaired osteoblast function with reduced long and craniofacial bones. Another allele shows infertility, lipodystrophy, impaired glycogen, glucose, and insulin metabolism, and impaired memory and coordination. [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
