Primary Identifier | MGI:2136405 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 93683 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables heparosan-N-sulfate-glucuronate 5-epimerase activity. Involved in heparan sulfate proteoglycan biosynthetic process and heparin biosynthetic process. Located in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in cerebrovascular disease and hypertension. Orthologous to human GLCE (glucuronic acid epimerase). PHENOTYPE: Homozygous mutant mice die immediately after birth showing severe developmental defects including renal agenesis, lung abnormalities, and skeletal malformations. [provided by MGI curators] |