Gene Symbol | EXTL3 |
Entrez Gene ID | 2137 |
Full Name | exostosin like glycosyltransferase 3 |
Synonyms | BOTV,EXTL1L,EXTR1,ISDNA,REGR,RPR |
General protein information |
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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) |