| Primary Identifier | MGI:1194490 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 13367 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including profilin binding activity; small GTPase binding activity; and transmembrane transporter binding activity. Involved in actin filament polymerization; nervous system development; and synaptic vesicle endocytosis. Acts upstream of or within several processes, including ephrin receptor signaling pathway; multicellular organismal locomotion; and plasma membrane bounded cell projection organization. Located in several cellular components, including brush border; neuron projection; and ruffle membrane. Is expressed in several structures, including brain; genitourinary system; gut; liver; and lung. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss. Orthologous to human DIAPH1 (diaphanous related formin 1). PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth. [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
