Primary Identifier | MGI:1347007 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 26432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable procollagen-lysine 5-dioxygenase activity. Predicted to be involved in collagen fibril organization; hydroxylysine biosynthetic process; and peptidyl-lysine hydroxylation. Predicted to be located in rough endoplasmic reticulum membrane. Predicted to be active in several cellular components, including Golgi apparatus; endoplasmic reticulum; and extracellular space. Is expressed in several structures, including alimentary system; brain; branchial arch; sensory organ; and skeleton. Orthologous to human PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2). PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with increased endoplasmic reticulum stress, increased apoptosis, and cardiac abnormalities suggesting heart failure. [provided by MGI curators] |