| Primary Identifier | MGI:99907 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 18822 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including L-ascorbic acid binding activity; ferrous iron binding activity; and procollagen-lysine 5-dioxygenase activity. Predicted to be involved in collagen fibril organization; epidermis development; and peptidyl-lysine hydroxylation. Located in collagen-containing extracellular matrix. Part of catalytic complex. Is expressed in several structures, including alimentary system; brain; branchial arch; sensory organ; and skeleton. Used to study Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome kyphoscoliotic type 1. Orthologous to human PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1). PHENOTYPE: Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection. [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
