| Primary Identifier | MGI:1321395 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 108075 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable transforming growth factor beta binding activity. Involved in elastic fiber assembly. Acts upstream of or within hormone secretion and transforming growth factor beta receptor signaling pathway. Located in microfibril. Is expressed in aorta; blood vessel; ovary; and oviduct. Used to study cutis laxa. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IC. Orthologous to human LTBP4 (latent transforming growth factor beta binding protein 4). PHENOTYPE: Homozygous disruption of this locus results in pulmonary emphysema, cardiomyopathy, and colon cancer. [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
