| Primary Identifier | MGI:1926189 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 100952 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables extracellular matrix constituent conferring elasticity and identical protein binding activity. Involved in several processes, including negative regulation of signal transduction; regulation of angiogenesis; and regulation of extracellular matrix organization. Acts upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular matrix. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 10. Orthologous to human EMILIN1 (elastin microfibril interfacer 1). PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [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
