| Primary Identifier | MGI:1891836 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 59030 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including fat cell differentiation; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including blood vessel diameter maintenance; brain development; and regulation of actin filament organization. Located in kinociliary basal body and motile cilium. Is expressed in several structures, including face; ganglia; limb; mesenchyme derived from splanchnopleure; and sensory organ. Used to study Bardet-Biedl syndrome 6 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; congenital heart disease; and obesity. Orthologous to human MKKS (MKKS centrosomal shuttling protein). PHENOTYPE: Homozygous null mice display partial embryonic lethality, retinal degeneration, obesity, increased food intake, hypoactivity, increased blood pressure, male infertility with the absence of flagella on spermatozoa, decreased aggression, and impaired olfaction but, do not display limb deformities. [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
