Primary Identifier | MGI:1202386 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 104346 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity and small GTPase binding activity. Involved in flagellated sperm motility; positive regulation of protein localization to cilium; and positive regulation of smoothened signaling pathway. Acts upstream of or within several processes, including axoneme assembly; determination of left/right symmetry; and epithelial cilium movement involved in extracellular fluid movement. Located in several cellular components, including ciliary basal body; glial cell projection; and sperm flagellum. Is expressed in bronchus; nasal cavity epithelium; and nervous system. Used to study primary ciliary dyskinesia 33. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 33. Orthologous to human GAS8 (growth arrest specific 8). PHENOTYPE: Mice homozygous for a gene trap allele exhibit postnatal lethality, severe hydrocephaly, situs inversus with levocardia and abnormal cilia morphology and function. [provided by MGI curators] |