| Primary Identifier | MGI:1915589 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 68339 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables PDZ domain binding activity; microtubule binding activity; and protein dimerization activity. Involved in protein destabilization. Acts upstream of or within several processes, including mucociliary clearance; negative regulation of microtubule depolymerization; and respiratory basal cell differentiation. Is active in apical junction complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and long bone. Human ortholog(s) of this gene implicated in hydrocephalus and spinocerebellar ataxia type 40. Orthologous to human CCDC88C (coiled-coil domain containing 88C). PHENOTYPE: Mice homozygous for a null allele exhibit lack of coordinated cilia orientation and movement on the left ventricle wall. Homozygous knockout also leads to delayed wound healing and postnatal weight loss. [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
