Primary Identifier | MGI:2387863 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 114602 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables molecular adaptor activity and protein folding chaperone. Involved in inner dynein arm assembly; outer dynein arm assembly; and positive regulation of motile cilium assembly. Acts upstream of or within several processes, including motile cilium assembly; protein folding; and protein localization to cilium. Located in apical plasma membrane and cytoplasm. Is expressed in lung; nasal cavity epithelium; and testis. Used to study primary ciliary dyskinesia 22. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 22. Orthologous to human ZMYND10 (zinc finger MYND-type containing 10). PHENOTYPE: Mice homozygous for a knock-out allele die prematurely exhibiting postnatal growth retardation, hydrocephalus, situs inversus, impaired mucociliary clearance, lung inflammation, and loss of ciliary motility and inner and outer dynein arm components without disruption of ciliogenesis. [provided by MGI curators] |