| Primary Identifier | MGI:1927222 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 56419 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity; microtubule binding activity; and protein homodimerization activity. Involved in actin filament polymerization. Acts upstream of or within several processes, including autophagosome-lysosome fusion; cytoskeleton organization; and myeloid cell differentiation. Located in cytoplasm and nucleus. Part of ESCRT I complex and filamentous actin. Is active in several cellular components, including cleavage furrow; cytoskeleton; and stereocilia tip-link density. Is expressed in several structures, including alimentary system; brain; gonad; submandibular gland primordium; and vibrissa. Used to study autosomal dominant auditory neuropathy 1 and congenital dyserythropoietic anemia. Human ortholog(s) of this gene implicated in autosomal dominant auditory neuropathy 1. Orthologous to human DIAPH3 (diaphanous related formin 3). PHENOTYPE: Mice homozygous for disruption of this gene display embryonic mortality and abnormal cytokinesis of RBC. [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
