GALNS - galactosamine (N-acetyl)-6-sulfatase Gene

Also Known as GAS; MPS4A; GalN6S; GALNAC6S

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2588

About GALNS

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,813,734-88,856,947 (from NCBI)

This gene has 13 transcripts (splice variants), 210 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 24 other tissues.

Summary

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

GALNS Products (3)

mRNA	Protein	Name
NM_000512.5	NP_000503.1	N-acetylgalactosamine-6-sulfatase isoform 1 precursor
NM_001323543.2	NP_001310472.1	N-acetylgalactosamine-6-sulfatase isoform 3
NM_001323544.2	NP_001310473.1	N-acetylgalactosamine-6-sulfatase isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables sulfuric ester hydrolase activity	IDA IDA: Inferred from direct assay	15962010	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

Protein Preferred Names	Protein Names
N-acetylgalactosamine-6-sulfatase	N-acetylgalactosamine-6-sulfate sulfatase

Related Diseases

Diseases	Alias
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 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
Primary Bone Dysplasia	Primary Osteodysplasia Primary Skeletal Dysplasia
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
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
Mucopolysaccharidoses
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]
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
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
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
Gangliosidosis	Gangliosidoses
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
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
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
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
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
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 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]
Osteochondrosis	Osteochondritis Apophysitis Epiphysitis Osteochondritis Juvenilis Epiphyseal Necrosis Juvenile Osteochondrosis Of Tibial Tubercle
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
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
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
Galactosialidosis	Goldberg Syndrome Neuraminidase Deficiency With Beta-Galactosidase Deficiency Ppca Deficiency GSL Lysosomal Protective Protein Deficiency Cathepsin A Deficiency Neuraminidase/Beta-Galactosidase Expression Protective Protein/Cathepsin A Deficiency Ngbe Cathepsin A Deficiency Of Lysosomal Protective Protein Deficiency Of Deficiency Of Cathepsin A Neuraminidase Beta-Galactosidase Deficiency Protective Protein Cathepsin A Deficiency
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
Dyggve-Melchior-Clausen Disease	Dyggve-Melchior-Clausen Syndrome DMC Dmc Disease Pseudo-Morquio Disease Type I Dmc Syndrome
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
Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency Type 2 Naga Deficiency Type 2 Schindler Disease, Type Ii Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease Type 2 Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset Naga Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset KANZD Naga Deficiency Type Ii Schindler Disease Type Ii
Legg-Calve-Perthes Disease	Perthes Disease LCPD Coxa Plana Legg-Perthes Disease Juvenile Osteochondrosis Of Hip And Pelvis Pseudocoxalgia Legg-Calvé-Perthes Disease Lcp Calve - Perthes' Disease Juvenile Osteochond-Hip/Pelvis Juvenile Osteochondrosis Of Hip And/Or Pelvis Legg-Calve-Perthes Symptom Osteochondrosis Of Legg-Calve-Perthes Perthe'S Disease Legg-Calve-Perthes Syndrome Osteochondritis Deformans Calve-Perthes Disease Aseptic Necrosis Of The Capital Femoral Epiphysis Osteochondrosis Of The Capital Femoral Epiphysis Legg-Calvé-Perthes Syndrome Avascular Necrosis Of The Capital Femoral Epiphysis
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Gm1-Gangliosidosis, Type Ii	Gm1 Gangliosidosis Type 2 GM1G2 Gangliosidosis, Generalized Gm1, Type 2 Juvenile Gm1 Gangliosidosis Gangliosidosis Generalized Gm1 Type 2 Gangliosidosis, Generalized Gm1, Juvenile Type Gangliosidosis, Generalized Gm1, Type Ii Gangliosidosis Generalized Gm1 Juvenile Type Late-Infantile Gm1 Gangliosidosis Gm1-Gangliosidosis 2 Gangliosidosis Generalized Gm1 Late Infantile Type Gm1-Gangliosidosis Generalized Juvenile Type Gangliosidosis, Gm1, Type Ii
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
Osteogenesis Imperfecta, Type Xi	Osteogenesis Imperfecta Type 11 OI11 Osteogenesis Imperfecta Type Xi Oi, Type Xi Osteogenesis Imperfecta 11 Oi Type Xi Oi-Xi
Tracheal Stenosis	Stenosis Of Trachea
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
Mucolipidosis
Isolated Growth Hormone Deficiency, Type Ii	Ighd Ii Isolated Growth Hormone Deficiency Type Ii IGHD2 Growth Hormone Deficiency, Isolated, Type Ii Congenital Ighd Type Ii Congenital Isolated Gh Deficiency Type Ii Congenital Isolated Growth Hormone Deficiency Type Ii Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant Growth Hormone Deficiency, Isolated, Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant Autosomal Dominant Isolated Growth Hormone Deficiency Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 2 Growth Hormone Deficiency, Isolated Autosomal Dominant Growth Hormone Deficiency, Isolated, 2 Growth Hormone Deficiency Isolated Autosomal Dominant
Bone Development Disease
Umbilical Hernia	Hernia, Umbilical
Sphingolipidosis	Sphingolipidoses
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

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 (11)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-N1441	Afzelin		99.62%	Unkown
HY-122920	Soyasaponin II	Inhibitor	99.81%	Unkown
HY-D1633A	4-Methylumbelliferyl-β-D-galactopyranoside 6-sulfate sodium		99.92%	Unkown
HY-D1633	4-Methylumbelliferyl-β-D-galactopyranoside 6-sulfate		95.0%	Unkown
HY-184736	STAT3/NF-κB-IN-3	Inhibitor	/	Unkown
HY-E70188	N-Acetylgalactosamine-6-Sulfatase		/	Unkown
HY-P10241	Ac-LEHD-CHO	Inhibitor	/	Unkown
HY-RS05246	GALNS Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N12069	Praeroside IV		/	Unkown
HY-RS20933	Galns Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27450	Galns Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GALNS	VGNC	VGNC:53388
Bos taurus	GALNS	VGNC	VGNC:57046
Rattus norvegicus	GALNS	RGD	RGD:1565391
Mus musculus	GALNS	MGD	MGI:1355303
Others	GALNS	NCBI