1. Gene
  2. GNS - glucosamine (N-acetyl)-6-sulfatase Gene

GNS - glucosamine (N-acetyl)-6-sulfatase Gene

中文名称:氨基葡萄糖 (N-乙酰基) -6-硫酸酯酶

种属: Homo sapiens

同用名: G6S

基因 ID: 2799 | 基因类型: protein coding

关于 GNS

Cytogenetic location: 12q14.3 Genomic coordinates (GRCh38): 12:64,713,449-64,759,406 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 76.5), kidney (RPKM 63.0) and 24 other tissues.

功能概要

该基因的产物是一种存在于所有细胞中的溶酶体酶。它参与肝素、硫酸乙酰肝素和硫酸角质素的分解代谢。这种酶的缺乏导致未降解底物的积累和溶酶体贮积症 IIID 型粘多糖贮积症 (Sanfilippo D 综合征) 。 IIID 型粘多糖贮积症是 Sanfilippo 综合征四种亚型中最不常见的一种。[RefSeq 提供,2008 年 7 月]

The product of this gene is a lysosomal Enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this Enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]

GNS 基因产物(1)

mRNA Protein Name
NM_002076.4 NP_002067.1 N-acetylglucosamine-6-sulfatase precursor

GNS 蛋白结构

Sulfatase

Sulfatase: Sulfatase (47 - 384)

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  • 552 a.a.
蛋白主名 其他名称

N-acetylglucosamine-6-sulfatase

glucosamine -6-sulfatase

重组 GNS 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70300 Glucosamine (N-acetyl)-6-Sulfatase/GNS Protein, Human (HEK293, His) P15586 (V37-L552) ≥95%

关联疾病

疾病名称 别名
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 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

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

Multiple Sulfatase Deficiency

Mucosulfatidosis

MSD

Sulfatidosis, Juvenile, Austin Type

Multiple Sulfatase Deficiency Disease

Juvenile Sulfatidosis, Austin Type

Juvenile Sulfatidosis

Sulfatidosis Juvenile, Austin Type

Austin Syndrome

Sulfatidosis Juvenile Austin Type

Sulfatase Deficiency, Multiple

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

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 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

Osteogenesis Imperfecta, Type Xiii

Osteogenesis Imperfecta Type 13

OI13

Osteogenesis Imperfecta Type Xiii

Oi, Type Xiii

Osteogenesis Imperfecta 13

Oi Type Xiii

Oi-Xiii

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

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder

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

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11

OI11

Osteogenesis Imperfecta Type Xi

Oi, Type Xi

Osteogenesis Imperfecta 11

Oi Type Xi

Oi-Xi

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 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 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

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

Wild-Type Amyloidosis

Senile Systemic Amyloidosis

Attrwt Amyloidosis

Age Related Amyloidosis

Old Age Amyloidosis

Wild-Type Attr Amyloidosis

Wild-Type Transthyretin Cardiac Amyloidosis

Wild Type Attr Amyloidosis

Attrwt-Related Amyloidosis

Wild Type Attr-Related Amyloidosis

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

Myostatin-Related Muscle Hypertrophy

Mslhp

Muscle Hypertrophy Syndrome

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]

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GNS VGNC VGNC:99932
Canis familiaris GNS VGNC VGNC:54150
Mus musculus GNS MGD MGI:1922862
Rattus norvegicus GNS RGD RGD:1305877
Bos taurus GNS VGNC VGNC:56204
Felis catus GNS VGNC VGNC:84025
Others GNS NCBI