| Protein Name | exostosin glycosyltransferase 1 |
|---|---|
| Organism | Mus musculus |
| Gene ID | 14042 |
| Gene Symbol | Ext1 |
| UniProt | P97464 (EXT1_MOUSE), Q3V1P4 (Q3V1P4_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
18
Total Number of Articles : 42 |
Description |
exostosin glycosyltransferase 1 |
| Gene Summary |
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 glomerular visceral epithelial cell differentiation; heparin biosynthetic process; and nervous system development. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and leukocyte migration. Is integral component of endoplasmic reticulum membrane. 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; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Orthologous to human EXT1 (exostosin glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022] |
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| Properties | |