| Primary Identifier | MGI:1891209 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 58859 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable heparin binding activity and protein homodimerization activity. Involved in several processes, including elastic fiber assembly; negative regulation of vascular associated smooth muscle cell proliferation; and vasculature development. Acts upstream of or within artery development. Located in basement membrane; elastic fiber; and microfibril. Is expressed in several structures, including central nervous system; genitourinary system; gut; immune system; and respiratory system. Used to study aortic aneurysm and cutis laxa. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality with abnormal artery and lung morphology and defects in vascular, pulmonary, and hypodermal elastic fibers. Some alleles of Mus81 also affect expression of this gene. [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
