| Primary Identifier | MGI:109347 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 17022 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable collagen binding activity. Involved in positive regulation of transforming growth factor beta1 production. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in extracellular matrix. Is expressed in several structures, including alimentary system; ear; genitourinary system; heart and pericardium; and nervous system. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in carotid artery disease; coronary artery disease; and pancreatic cancer. Orthologous to human LUM (lumican). PHENOTYPE: Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. [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
