| Gene Symbol | EXTL3 |
| Entrez Gene ID | 2137 |
| Full Name | exostosin like glycosyltransferase 3 |
| Synonyms | BOTV,EXTL1L,EXTR1,ISDNA,REGR,RPR |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]. |
| Disorder MIM: | |
| Disorder Html: | Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3) |








































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