Primary Identifier | MGI:1919977 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 72727 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity and protein phosphatase activator activity. Involved in glycosaminoglycan biosynthetic process. Predicted to be located in cis-Golgi network. Predicted to be active in Golgi membrane. Is expressed in several structures, including cranium; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Larsen-like syndrome B3GAT3 type. Orthologous to human B3GAT3 (beta-1,3-glucuronyltransferase 3). PHENOTYPE: Homozygous mutants die prenatally before the 8-cell stage due to failed cytokinesis, and show reduction of the synthesis of chondroitin sulfate and heparan sulfate glycosaminoglycans. [provided by MGI curators] |