| Primary Identifier | MGI:108050 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14043 |
| 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; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; and protein homodimerization activity. Acts upstream of or within with a positive effect on gene expression; protein N-linked glycosylation; and sulfation. Acts upstream of or within several processes, including heparin biosynthetic process; multicellular organismal-level water homeostasis; and skeletal system development. Located in endoplasmic reticulum. Is active in Golgi apparatus. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and respiratory system. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2). PHENOTYPE: Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs. [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
