loading...| Preferred Name | Defective NAGLU does not hydrolyse GlcNAc | |
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Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 MPS IIIB (Sanfilippo syndrome B, Mucopolysaccharidosis IIIB, MIM:252920) is an autosomal recessive genetic disorder due to loss of function of alpha-N-acetylglucosaminidase (NAGLU; MIM:609701), normally involved in the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in heparan sulfate (HS). Mutations that cause severe forms of MPSIIIB are R674C or H (Zhao et al. 1998), R297X (Yogalingam & Hopwood 2001, Zhao et al. 1998) and R626X (Beesley et al 2004). Reviewed: Alves, Sandra, 2012-08-27 |
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http://purl.obolibrary.org/obo/HINO_0008151 |
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Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 MPS IIIB (Sanfilippo syndrome B, Mucopolysaccharidosis IIIB, MIM:252920) is an autosomal recessive genetic disorder due to loss of function of alpha-N-acetylglucosaminidase (NAGLU; MIM:609701), normally involved in the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in heparan sulfate (HS). Mutations that cause severe forms of MPSIIIB are R674C or H (Zhao et al. 1998), R297X (Yogalingam & Hopwood 2001, Zhao et al. 1998) and R626X (Beesley et al 2004). Reviewed: Alves, Sandra, 2012-08-27 |
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| definition source |
Pubmed9443875 Reactome, http://www.reactome.org Pubmed14984474 Pubmed11668611 |
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Defective NAGLU does not hydrolyse GlcNAc |
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Defective NAGLU does not hydrolyse N-acetylglucosamine from HS or heparan |
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HINO:0008151 |
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Defective NAGLU does not hydrolyse GlcNAc |
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Reactome Database ID Release 432263496 ReactomeREACT_147874 |
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