Primary Identifier | MGI:106096 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 16949 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein-lysine 6-oxidase activity. Predicted to be involved in collagen fibril organization. Located in extracellular matrix and extracellular space. Is expressed in several structures, including central nervous system; chondrocranium; genitourinary system; and liver. Used to study exfoliation syndrome. Human ortholog(s) of this gene implicated in Kuhnt-Junius degeneration; exfoliation syndrome; and primary open angle glaucoma. Orthologous to human LOXL1 (lysyl oxidase like 1). PHENOTYPE: Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. [provided by MGI curators] |