loading...| Preferred Name | Defective GALNS does not hydrolyse sulfate from Gal6S | |
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| Definitions |
From a recent review of mutations for MPSIVA (MIM:253000) (Tomatsu et al. 2005), almost 80% of mutations in N-acetylgalactosamine 6-sulfatase (GALNS; MIM:612222) were missense mutations and of these, the most common ones are R386C, G301C and I113F. Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Authored: Jassal, B, 2012-05-21 Reviewed: Alves, Sandra, 2012-08-27 |
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| ID |
http://purl.obolibrary.org/obo/HINO_0008276 |
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| comment |
From a recent review of mutations for MPSIVA (MIM:253000) (Tomatsu et al. 2005), almost 80% of mutations in N-acetylgalactosamine 6-sulfatase (GALNS; MIM:612222) were missense mutations and of these, the most common ones are R386C, G301C and I113F. Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Authored: Jassal, B, 2012-05-21 Reviewed: Alves, Sandra, 2012-08-27 |
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| definition source |
Reactome, http://www.reactome.org Pubmed16287098 |
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| has input | ||
| label |
Defective GALNS does not hydrolyse sulfate from Gal6S |
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| name |
Defective GALNS does not hydrolyse sulfate from galactose 6-sulfate in KS |
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| prefixIRI |
HINO:0008276 |
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| prefLabel |
Defective GALNS does not hydrolyse sulfate from Gal6S |
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| seeAlso |
Reactome Database ID Release 432263490 ReactomeREACT_147848 |
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| subClassOf |