galactosamine (N-acetyl)-6-sulfatase

Target id: 2765

Nomenclature: galactosamine (N-acetyl)-6-sulfatase

Family: 3.1.-.- Ester bond enzymes

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for galactosamine (N-acetyl)-6-sulfatase in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 522 16q24.3 GALNS galactosamine (N-acetyl)-6-sulfatase
Mouse - 520 8 E1 Galns galactosamine (N-acetyl)-6-sulfate sulfatase
Rat - 524 19q12 Galns galactosamine (N-acetyl)-6-sulfatase
Previous and Unofficial Names
N-acetylgalactosamine-6-sulfatase | galactosamine (N-acetyl)-6-sulfate sulfatase
Database Links
BRENDA
CATH/Gene3D
Ensembl Gene
Entrez Gene
GenitoUrinary Development Molecular Anatomy Project
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction
EC Number: 3.1.6.4
Physiological Functions
GALNS catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.
Species:  Human
Tissue:  placenta
References:  2
Clinically-Relevant Mutations and Pathophysiology
Disease:  Mucopolysaccharidosis type IVA
Disease Ontology: DOID:12804
OMIM: 253000
Orphanet: ORPHA582
Role: 
Drugs: 
Therapeutic use:  Elosufase alfa is a recombinant enzyme replacement therapy.
References:  1,3

References

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1. Glössl J, Kresse H. (1982) Impaired degradation of keratan sulphate by Morquio A fibroblasts. Biochem. J.203 (1): 335-8. [PMID:6213226]

2. Lim CT, Horwitz AL. (1981) Purification and properties of human N-acetylgalactosamine-6-sulfate sulfatase. Biochim. Biophys. Acta657 (2): 344-55. [PMID:7213753]

3. Yutaka T, Okada S, Kato T, Inui K, Yabuuhi H. (1982) Galactose 6-sulfate sulfatase activity in Morquio syndrome. Clin. Chim. Acta122 (2): 169-80. [PMID:6809361]

How to cite this page

3.1.-.- Ester bond enzymes: galactosamine (N-acetyl)-6-sulfatase. Last modified on 13/08/2015. Accessed on 11/12/2017. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2765.