| Primary Identifier | MGI:894663 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 14042 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within with a positive effect on several processes, including heparin biosynthetic process; nervous system development; and podocyte differentiation. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including cell surface receptor signaling pathway; extracellular matrix organization; and skeletal system development. Located in endoplasmic reticulum membrane. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma and hereditary multiple exostoses. Orthologous to human EXT1 (exostosin glycosyltransferase 1). PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. [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
