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SGSH N-sulfoglucosamine sulfohydrolase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000199 Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol SGSH
Entrez Gene ID 6448
Full Name N-sulfoglucosamine sulfohydrolase
Synonyms HSS, MPS3A, SFMD
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q25.3

Summary This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
Disorder

MIM: 605270

Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)

mRNA Protein Product Sequence Price Select
NM_000199, 182765452 NP_000190, 4506919 N-sulphoglucosamine sulphohydrolase precursor ORF Sequence $550.00
KEGG
hsa04142Lysosome
hsa_M00078Heparan sulfate degradation
M00078Heparan sulfate degradation
hsa00531Glycosaminoglycan degradation
Reactome
REACT_120752HS-GAG degradation
REACT_121315Glycosaminoglycan metabolism
REACT_147759MPS VII - Sly syndrome
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_116125Disease
REACT_121314Heparan sulfate/heparin (HS-GAG) metabolism
REACT_147857MPS I - Hurler syndrome
REACT_147798MPS IV - Morquio syndrome B
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147734MPS II - Hunter syndrome
REACT_111217Metabolism
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147739MPS IX - Natowicz syndrome
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_474Metabolism of carbohydrates
REACT_147853Mucopolysaccharidoses
REACT_147825MPS IV - Morquio syndrome A
REACT_147719MPS VI - Maroteaux-Lamy syndrome
Homo sapiens (human)SGSHNP_000190.1
Macaca mulatta (Rhesus monkey)SGSHXP_001110101.2
Canis lupus familiaris (dog)SGSHNP_001003114.1
Bos taurus (cattle)SGSHNP_001095659.2
Mus musculus (house mouse)SgshNP_061292.2
Gallus gallus (chicken)SGSHXP_420084.3
Danio rerio (zebrafish)sgshNP_001116740.1
Drosophila melanogaster (fruit fly)CG14291NP_650760.1
GeneCards SGSH
UniProt P51688
MIM 605270
Ensembl ENSG00000181523
HGNC 10818
HPRD 05590

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
N-sulphoglucosamine sulphohydrolase
Names
N-sulphoglucosamine sulphohydrolase
sulphamidase
heparan sulfate sulfatase
sulfoglucosamine sulfamidase
mucopolysaccharidosis type IIIA
NP_000190.1

Interactant



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