SGSH - N-sulfoglucosamine sulfohydrolase Gene

Also Known as HSS; SFMD; MPS3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6448

About SGSH

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,200,673-80,220,333 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 9.6), adrenal (RPKM 9.4) and 25 other tissues.

Summary

This gene encodes the enzyme sulfamidase; one of several Enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, 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, Jun 2017]

SGSH Products (3)

mRNA	Protein	Name
NM_000199.5	NP_000190.1	N-sulphoglucosamine sulphohydrolase isoform 1 precursor
NM_001352921.3	NP_001339850.1	N-sulphoglucosamine sulphohydrolase isoform 2 precursor
NM_001352922.2	NP_001339851.1	N-sulphoglucosamine sulphohydrolase isoform 3 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N-sulfoglucosamine sulfohydrolase activity	IDA IDA: Inferred from direct assay	7493035	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15962010	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glycosaminoglycan catabolic process	IDA IDA: Inferred from direct assay	7493035	GOA
involved in heparan sulfate proteoglycan catabolic process	IMP IMP: Inferred from mutant phenotype	15146460	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in lysosome	IDA IDA: Inferred from direct assay	15146460	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGSH Protein Structure

Sulfatase

0
100
200
300
400
502 a.a.

Protein Preferred Names	Protein Names
N-sulphoglucosamine sulphohydrolase	heparan sulfate sulfatase

SGSH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SGSH	P51688	SUMF1	Homo sapiens	Q8NBK3	Anti Tag CoIP	33961781
Intra	SGSH	P51688	SUMF1	Homo sapiens	Q8NBK3	Anti Tag CoIP	15962010

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SGSH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71307	SGSH Protein, Human (HEK293, His)	P51688 (R21-L502)	≥ 95%, as determined by reducing SDS-PAGE.

SGSH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86299	SGSH Antibody (YA5991)	WB, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Mucopolysaccharidosis, Type Iiib	Mucopolysaccharidosis Type Iiib MPS3B Naglu Deficiency Mps Iiib Sanfilippo Syndrome B N-Acetyl-Alpha-D-Glucosaminidase Deficiency Mpsiiib Mucopoly-Saccharidosis Type 3b Mucopolysaccharidosis Type 3b N-Acetyl-Alpha-Glucosaminidase Deficiency Sanfilippo Syndrome Type B Mps Iii B Mps 3b Mps Iii-B Mucopolysaccharidosis 3b
Kluver-Bucy Syndrome	Bilateral Temporal Lobe Disorder Klüver-Bucy Syndrome Klver-Bucy Syndrome Kluver Bucy Syndrome Memory Loss, Extreme Sexual Behavior, Placidity, And Visual Distractibility Post-Encephalitic Kluver Bucy Syndrome Post-Traumatic Kluver Bucy Syndrome
Scheie Syndrome	Mucopolysaccharidosis Type Is Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis Type I Mucopolysaccharidosis I Hurler-Scheie Syndrome Mucopolysaccharidosis Type 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type 1s Mucopolysaccharidosis Type V Hurler Syndrome Idua Deficiency Mps I MPS1S Mps1-S Mucopolysaccharidosis Type V, Formerly Mps V, Formerly Mps5, Formerly Lipochondrodystrophy Mpsis Mucopolysaccharidosis, Type I Iduronidase Deficiency Disease Mps I - Hurler Syndrome Mucopolysaccharidosis, Mps-I Mucopolysaccharidosis, Type 1 Attenuated Mps I Mps 1 Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V) Severe Mps I Mps I H Mps I H-S Mps I S Mps1 Mpsi Mucopolysaccharidosis 1s Mps Is Mps-Is Mps V Mucopolysaccharidosis V Pfaundler-Hurler Syndrome L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Mps1 - [Mucopolysaccharidosis Type 1]
Mucopolysaccharidosis, Type Iiid	Mucopolysaccharidosis Type Iiid MPS3D Mps Iiid N-Acetylglucosamine-6-Sulfatase Deficiency Sanfilippo Syndrome D Gns Deficiency Mucopolysaccharidosis Type 3d Sanfilippo Syndrome Type D Glucosamine N-Acetyl-6-Sulfatase Deficiency Mpsiiid Mps 3d Mucopoly-Saccharidosis Type 3d N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency Mps Iii-D Mucopolysaccharidosis 3d Sanfilippo D Syndrome Mps Iii D
Mucopolysaccharidosis, Type Iiic	Mucopolysaccharidosis Type Iiic MPS3C Mps Iiic Sanfilippo Syndrome C Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency Hgsnat Deficiency Mpsiiic Mucopolysaccharidosis Type 3c Sanfilippo Syndrome Type C Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopoly-Saccharidosis Type 3c Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency Mps 3c Mps Iii-C Mucopolysaccharidosis 3c Mucopolysaccharidosis Iii Mps Iii C
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type Ih/S Mucopolysaccharidosis Ih/S MPS1H/S Mpsih/S Mucopolysaccharidosis Type 1h/S Mps1-Hs Alpha-L-Iduronidase Deficiency Mucopolysaccharidosis I Mucopolysaccharidosis 1h/S Mps-Ih/S
Mannosidosis, Alpha B, Lysosomal	Alpha-Mannosidosis Lysosomal Alpha-D-Mannosidase Deficiency Deficiency Of Alpha-Mannosidase Alpha-Mannosidase B Deficiency Mannosidosis MANSA Mannosidosis, Alpha-, Types I And Ii Alpha-D-Mannosidosis Alpha-Mannosidase Deficiency Α-Mannosidosis Alpha Mannosidase B Deficiency Mannosidosis, Alpha B Lysosomal Lysosomal Alpha B Mannosidosis Alpha-Mannosidosis, Infantile Form Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form Alpha-Mannosidosis, Adult Form Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form Alpha-Mannosidosis Types I And Ii Mannosidase Deficiency Diseases
Mucopolysaccharidosis, Type Ivb	Mucopolysaccharidosis Type Ivb Mps Ivb MPS4B Morquio Syndrome B Beta-D-Galactosidase Deficiency Morquio Disease Type B Mps 4b Mucopolysaccharidosis Type 4b Mpsivb Morquio Disease, Type B Mucopolysaccharidosis Type Iv-B Mucopolysaccharidosis 4b Morquio'S Syndrome B Mps-Ivb
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Mucopolysaccharidosis, Type Ii	Hunter Syndrome Iduronate 2-Sulfatase Deficiency Mucopolysaccharidosis Ii Mps Ii Mucopolysaccharidosis Type Ii MPS2 Sulfoiduronate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Ii Ids Deficiency Sids Deficiency I2s Deficiency Mucopolysaccharidosis Type 2 Mucopolysaccharidosis Type 2, Severe Form Deficiency Of Iduronate-2-Sulphatase Hunter'S Syndrome Mps Ii - Hunter Syndrome Iduronate-2-Sulfatase Deficiency Attenuated Mps Mps 2 Severe Mps Ii Mpsii Mucopolysaccharidosis Type 2, Attenuated Form Hunter Syndrome Type B Iduronate 2-Sulfatase Deficiency Type B Mps2b Mpsiib Mucopolysaccharidosis Type 2b Mucopolysaccharidosis Type Ii, Attenuated Form Mucopolysaccharidosis Type Iib Hunter Syndrome Type A Iduronate 2-Sulfatase Deficiency Type A Mps2a Mpsiia Mucopolysaccharidosis Type 2a Mucopolysaccharidosis Type Ii, Severe Form Mucopolysaccharidosis Type Iia Mucopolysaccharidosis 2 Hunters Syndrome Iduronate 2-Sulphatase Deficiency Iduronate Sulfatase Deficiency Iduronate Sulphatase Deficiency Sulfo-Iduronate Sulfatase Deficiency Sulfoiduronidate Sulfatase Deficiency Sulpho-Iduronate Sulphatase Deficiency Sulphoiduronidate Sulphatase Deficiency Mps2 - [Mucopolysaccharidosis 2]
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Mucopolysaccharidosis, Type Vii	Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Vii MPS7 Mps Vii Gusb Deficiency Mucopolysaccharidosis Type 7 Mucopolysaccharidosis 7 Deficiency Of Beta-Glucuronidase Mps Vii - Sly Syndrome Mps 7 Mpsvii Sly Disease Sl
Fucosidosis	Alpha-L-Fucosidase Deficiency Fucosidase Deficiency Disease A-Fucosidase Deficiency Alpha Fucosidase Deficiency Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues Alpha-Fucosidase Deficiency Fucosidase Deficiency FUCA1D
Gm1 Gangliosidosis	Beta-Galactosidase Deficiency Gangliosidosis Gm1 Deficiency Of Beta-Galactosidase Beta Galactosidase 1 Deficiency Beta-Galactosidosis Glb 1 Deficiency Beta-Galactosidase-1 Deficiency Beta-Galactosidase-1 Deficiency Glb1 Deficiency Landing Disease Gangliosidosis, Gm1
Mucopolysaccharidosis, Type Vi	Maroteaux-Lamy Syndrome Arylsulfatase B Deficiency Mucopolysaccharidosis Type Vi Mps Vi Mucopolysaccharidosis Vi Mucopolysaccharidosis Type 6 MPS6 Arsb Deficiency N-Acetylgalactosamine-4-Sulfatase Deficiency Mucopolysaccharidosis 6 N-Acetylgalactosamine 4-Sulfatase Deficiency Deficiency Of N-Acetylgalactosamine-4-Sulfatase Maroteaux - Lamy Syndrome Mps Vi - Maroteaux-Lamy Syndrome Mps 6 Maroteaux Lamy Syndrome Mucopoly-Saccharidosis Type Vi Polydystrophic Dwarfism Asb Deficiency Mpsvi Maroteaux-Lamy Disease Arsb - [Arylsulfatase B] Deficiency
Metachromatic Leukodystrophy	Arylsulfatase A Deficiency MLD Arsa Deficiency Sulfatide Lipidosis Metachromatic Leukoencephalopathy Cerebral Sclerosis, Diffuse, Metachromatic Form Cerebroside Sulfatase Deficiency Leukodystrophy, Metachromatic Pseudoarylsulfatase A Deficiency Leukodystrophy Metachromatic Sulfatidosis Metachromatic Leukodystrophy, Late Infantile Metachromatic Leukodystrophy Variant Deficiency Of Cerebroside-Sulfatase Scholz Cerebral Sclerosis Sulfatide Lipoidosis Cerebral Sclerosis Diffuse Metachromatic Form Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease Greenfield Disease Metachromatic Leukodystrophy, Adult Metachromatic Leukodystrophy, Juvenile Leukodystrophy Metachromatic Adult Leukodystrophy Metachromatic Juvenile Leukodystrophy Metachromatic Late Infantile Metachromatic Leukodystrophy, Adult Type Metachromatic Leukodystrophy, Juvenile Type Metachromatic Leukodystrophy, Infant Greenfield'S Disease
Gangliosidosis	Gangliosidoses
Hurler Syndrome	Mucopolysaccharidosis Ih Mucopolysaccharidosis Type Ih Mps1-H MPS1H Hurler Disease Mpsih Mucopolysaccharidosis Type 1h Alpha-L-Iduronidase Deficiency Dysostosis Multiplex Dysostosis Multiplex Syndrome Gargoylism Hurler Disease Mps Type 1h Hurler-Pfaundler Syndrome L-Iduronidase Deficiency, Hurler Type Mucopolysaccharidosis Type I Severe Form Mucopolysaccharidosis 1h Hurler'S Syndrome Mps Ih Mps-Ih Pfaundler-Hurler Syndrome Mucopolysaccharidosis I
Canavan Disease	Aspartoacylase Deficiency Aminoacylase 2 Deficiency Spongy Degeneration Of Central Nervous System Aspa Deficiency Acy2 Deficiency Canavan-Van Bogaert-Bertrand Disease Mild Canavan Disease Asp Deficiency Spongy Degeneration Of The Central Nervous System Severe Canavan Disease Von Bogaert-Bertrand Disease Canavan'S Disease Spongy Degeneration Of The Brain Juvenile Canavan Disease Infantile Canavan Disease Neonatal Canavan Disease CAND Disease, Canavan Canavan Disease, Juvenile Canavan Disease, Infantile Canavan Disease, Neonatal
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Krabbe Disease	Globoid Cell Leukodystrophy Galactosylceramide Beta-Galactosidase Deficiency Galc Deficiency Galactocerebrosidase Deficiency GLD Globoid Cell Leukoencephalopathy Diffuse Globoid Body Sclerosis Gcl Leukodystrophy, Globoid Cell Krabbe'S Leukodystrophy Krabbe Leukodystrophy KRB Beta Galactocerebrosidase Deficiency Krabbe'S Disease Galactosylceramidase Deficiency Disease Galactosylceramide Lipidosis Galactosylcerebrosidase Deficiency Galactosylsphingosine Lipidosis Psychosine Lipidosis Galactosylceramidase Deficiency Infantile Globoid Cell Leukodystrophy Krabbe Brain Sclerosis
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Sandhoff Disease	Total Hexosaminidase Deficiency Hexosaminidases A And B Deficiency Sandhoff Disease, Infantile, Juvenile, And Adult Forms Beta-Hexosaminidase-Beta-Subunit Deficiency Gm2 Gangliosidosis, Type 2 Hexosaminidase A And B Deficiency Disease Sandhoff-Jatzkewitz-Pilz Disease Gm2 Gangliosidosis, Type Ii Sandhoff Disease, Infantile Form Sandhoff Disease, Adult Form Sandhoff Disease, Juvenile Form Gm2-Gangliosidosis, Type Ii Sandhoff Jatzkewitz Disease Type Ii Gm2 Gangliosidosis Gm2 Gangliosidosis, 0 Variant Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Infantile Form Infantile Gm2 Gangliosidosis 0 Variant Adult Gm2 Gangliosidosis 0 Variant Hexosaminidases A And B Deficiency, Adult Form Hexosaminidases A And B Deficiency, Juvenile Form Juvenile Gm2 Gangliosidosis 0 Variant Gm2-Gangliosidosis 2 GM2G2 Hexosaminidase A And B Deficiency Sd
Gm2 Gangliosidosis	Gangliosidosis Gm2 Gangliosidoses, Gm2
Sphingolipidosis	Sphingolipidoses
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184063	Vexicitinib	Inhibitor	/	Unkown
HY-RS12812	SGSH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19953	Sgsh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26455	Sgsh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SGSH	VGNC	VGNC:46104
Rattus norvegicus	SGSH	RGD	RGD:1591134
Bos taurus	SGSH	VGNC	VGNC:34549
Macaca mulatta	SGSH	VGNC	VGNC:99255
Felis catus	SGSH	VGNC	VGNC:97624
Mus musculus	SGSH	MGD	MGI:1350341
Others	SGSH	NCBI