| 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 7.0.0) Enables PDZ domain binding activity; identical protein binding activity; and protein self-association. Involved in protein destabilization and regulation of protein phosphorylation. Predicted to be located in cell junction. Predicted to be active in centrosome and cytoplasm. 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
