| Primary Identifier | MGI:2444797 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 217119 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein xylosyltransferase activity. Involved in glycosaminoglycan biosynthetic process. Acts upstream of or within heparin biosynthetic process and proteoglycan biosynthetic process. Predicted to be located in extracellular space. Predicted to be active in Golgi apparatus. Is expressed in alimentary system; cardiovascular system; integumental system; and nervous system. Used to study polycystic kidney disease. Human ortholog(s) of this gene implicated in pseudoxanthoma elasticum. Orthologous to human XYLT2 (xylosyltransferase 2). PHENOTYPE: Mice homozygous for a knock-out allele lack most liver proteoglycans and develop many aspects of polycystic liver and kidney disease, including biliary tract hyperplasia, liver fibrosis, biliary cysts, renal tubule dilation, basement membrane abnormalities and hydronephrosis. [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
