Primary Identifier | MGI:1914292 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 67042 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity and GTPase activity. Involved in several processes, including intraciliary transport; smoothened signaling pathway; and spermatogenesis. Acts upstream of or within cochlea development and inner ear receptor cell stereocilium organization. Located in several cellular components, including centrosome; nucleus; and sperm flagellum. Part of intraciliary transport particle B. Is expressed in several structures, including secondary heart field; skin; and yolk sac mesenchyme. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 19. Orthologous to human IFT27 (intraflagellar transport 27). PHENOTYPE: Homozygous null mice die shortly after birth showing multiple structural birth defects, including heart, lung, skeletal, and brain abnormalities, associated with abnormal Hedgehog signaling. Hair follicle development is severely impaired but formation of the ciliary axoneme is normal. [provided by MGI curators] |