Printer friendly
"AcronymAttic.com

What does GALNS stand for?

GALNS stands for N-acetylgalactosamine-6-sulfate sulfatase

Advertisement:

This definition appears rarely

Samples in periodicals archive:

MPS IVA (Morquio A syndrome) is caused by a reduced or absent N-acetylgalactosamine-6-sulfate sulfatase. Clinical features and severity of symptoms of MPS IVA are widely variable, but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory insufficiency, and cardiac disease. Intelligence is usually normal. Estimates of the incidence of MPS IVA syndrome range from 1 in 200,000 to 1 in 300,000 live births.
Type A – does not have enough N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc.
The result is a disease called multiple sulfatase deficiency (MSD), in which the accumulation of glycoaminoglycans or sulfolipids can cause early infant death. [2][3][4] Known substrates for SUMF1 are: N-acetylgalactosamine-6-sulfate sulfatase (GALNS), arylsulfatase A (ARSA), steroid sulfatase (STS) and arylsulfatase E (ARSE). SUMF1 occurs in the endoplasmic reticulum or its lumen.
coli) Estrogen Estrogen Receptor Alpha (ER1 or ER alpha) Estrogen Receptor Beta (ER2 or ER beta) ETS1 Gene Eukaryotic translation initiation factor 4E (eIF4E) Eukaryotic translation initiation factor 5A-1 (eIF5A) Exportin-1/CRM1/XPO1 EZH2 F-ATPase FabI (enoyl-acyl carrier protein reductase) FACT (Facilitates Chromatin Transcription Complex) Factor D (alternate complement pathway) Factor II Inhibitors Factor X Inhibitors Fanconi anemia, complementation group C (FANCC) Farnesoid X receptor (FXR)/NR1H4 Farnesyl transferase Fas ligand (FasL) Fas receptor (FasR)/CD95/Apo-1/TNFRSf6) Fatty Acid Amide Hydrolase (FAAH) Fatty acids Fc receptors FDPase Ferritin Ferroportin Fetal hemoglobin Fibrin (Coagulation Factor Ia) Fibrinogen (Coagulation Factor I) Fibroblast Activation Protein (FAP) Fibroblast Growth Factor (FGF) Fibroblast Growth Factor Receptor (FGFR) Fibroblast Growth Factor Receptor-2 Fibroblasts Filamin A (FLNA) FKBP12 FLAP/5-lipoxygenase activating protein FMS-like tyrosine kinase 3 (FLT-3) Folate Binding Protein Folate Receptor (FOLR1) Follicle-stimulating hormone (FSH) Follicle-Stimulating Hormone Receptor (FSHR) FOX (Forkhead box) FPRL1 - Formyl peptide receptor homolog-1 Frataxin (FXN) Fumarate Reductase - helminth specific Furin G-quadruplex GABA GABA Receptors GABA Transaminase GABA-A Receptor GABA-B Receptor Galactosyl-3-sulfate ceramides (sulfatides) Galectin-3 Gamma-secretase Ganglioside GD2 Ganglioside GD3 Ganglioside GM1/fucosyl GM1 Ganglioside GM2 Ganglioside GM3 Gap Junction Gardos potassium channel Gastric Acid Gastric Epithelium Gastric Lipase Gastrin Releasing Peptide (GRP) gastrin1-17 (G17) GATA3 GC182 (CLDN18. 2) Geranylgeranyltransferase I (GGTase I) Geranylgeranyltransferase II (GGTase II) Ghrelin Receptor GIP Receptor (GIPR)/Glucose-Dependent Insulinotropic Polypeptide Receptor Glial Derived Neurotrophic Factor (GDNF) Globotriaosylceramide glycolipid GLP-1 Receptor GLP-2 Receptor Glucagon Receptor Glucocerebroside (glucosylceramide) Glucocorticoid Receptor (GR) Glucocorticoid Receptor – Transrepression Selective Agonist (SEGRA) Glucocorticoid-induced tumor necrosis factor receptor (GITR)/TNFRSF18 Glucose 6-phosphatase Glucose transporter 9 (GLUT9) Glucosylceramide Synthase Glutamate Transporter Glutamate-gated chloride ion channels (invertebrates) Glutamic Acid Decarboxylase (GAD) Glutamine Glutaminyl cyclase (QC) Glutathione (GSH) synthesis Glutathione S-Transferase Gluten Glycans Glyceraldehyde-3-phosphate dehydrogenase (GAPDH) Glycine Neurotransmitter Transporter (GlyT-1) Glycine Neurotransmitter Transporter (GlyT-2) Glycogen Glycogen Phosphorylase Glycogen synthase kinase 3 (GSK-3) Glycolate Oxidase (GO) Glycolysis Glycoprotein 1b (GP1B) / CD42b Glycoprotein NMB (GPNMB) Glycoprotein VI (GPVI) Glyoxalases Glypican 3 (GPC3) GlyR (Glycine receptors) Gonadotropin-Releasing Hormone (GnRH) Gonadotropin-Releasing Hormone (GnRH) Receptor gp100 gp120 gp41 gp75/Tyrosine Related Protein 1 (TRP1) gp91(phox)/NOX2 gpA33 gpIIb/IIIa GPR119/Glucose-Dependent Insulinotropic Receptor (GDIR) GPR40 (FFAR1, free fatty acid receptor 1) GPR43/FFA2 (Free Fatty Acid Receptor 2) GPR55 GPR84 Granulocyte Macrophage Colony-Stimulating Factor Receptor (GM-CSFR)/CD116 Granulocyte-colony Stimulating Factor (G-CSFR)/CD114 Granulocyte-Macrophage CSF (GM-CSF) Group B Streptococci Growth Differentiation Factor 15/GDF-15 Growth factor receptor bound protein 2, Grb-2 Growth hormone receptor (GHR) Growth Hormone Releasing Hormone (GHRH) Receptor GT622 GT623 GTP cyclohydrase I (CH1) Guanylate Cyclase (sGC) Guanylyl cyclase c Receptor H-ras H19 gene Haemophilus influenzae HB-EGF (heparin-binding epidermal growth factor) hCLCA1 HCV Polymerase (NS5B) - Allosteric binding sites (Non-nucleosides) HCV Polymerase - Nucleoside Binding Site HCV Protease HCV-p7 Heat Shock Protein 27 (HSP27) Heat Shock Protein 47 (HSP47) Heat Shock Protein 70 (HSP70) Heat Shock Protein 90 (HSP90) Heat shock transcription factor 1 (HSF-1) Hedgehog Signaling Pathway Helicase-primase enzyme complex - viral Hematopoietic Signal peptide-containing Secreted 1 (HSS1) Heme processing Hemoglobin Hemozoin Heparan sulfate Heparan-N-sulfatase (N-sulphoglucosamine sulphohydrolase) Heparanase/HPSE Heparin Hepatitis A Hepatitis B/HBV Hepatitis C/HCV Hepatitis D/HDV Hepatitis Delta Antigens Hepatocyte growth factor receptor (c-Met) Hepcidin HER2/neu or ErbB-2 Herpes Simplex Virus (HSV) Hexokinase/Glucokinase Histamine H1 Receptor (HRH1) Histamine H2 Receptor (HRH2) Histamine H3 Receptor (HRH3) Histamine H4 Receptors (HRH4) Histamine Receptors (unspecified) Histone Deacetylase (HDAC) Histone H1/DNA complex Histone Methyltransferase (HMT) HIV Gag protein HIV Integrase HIV p24 protein HIV-1 protease (HIV PR) HIV-1 Vpu HLA-A HLA-DR HMG CoA Reductase (HMGR) HOS2 Histone Deacetylase (Fungal) Human chorionic gonadotropin (hCG) Human Cytomegalovirus (HCMV) Human Immunodeficiency Virus (HIV) Human immunodeficiency virus type 1 (HIV-1) Human Neutrophil elastase (hNE) Human Papillomavirus (HPV) Human proIslet Peptide (HIP) Receptor Human protein tyrosine phosphatase beta (HPTP beta) Human Serum Albumin (HSA) Huntingtin Hyaluronic acid Hydroxyapatite Hypocretin/orexin receptor Hypothalamus Hypoxia Inducible Factor-1 alpha (HIF-1a) Hypoxia Inducible Factor-2 Alpha (HIF-2a) Hypoxia-Inducible Factor-Prolyl Hydroxylase (HIF-PH) Hypoxia/Tumor Hypoxic Environment IAPs (Inhibitor of apoptosis proteins) IDO (Indoleamine 2,3-dioxygenase) Iduronate-2-Sulfatase IGF-1R (Insulin-like Growth Factor-1 Receptor) IGF-2R (Insulin-like Growth Factor-2 Receptor)/Cation-independent mannose-6-phosphate/(CI-M6P) IKACh (acetylcholine-activated inward rectifier potassium current/channel) IkappaB kinase (IKK) IkB kinase-epsilon (IKKepsilon/IKBKE) IL-1 (Interleukin-1) IL-1 Receptor (IL-1R) IL-10 (Interleukin-10) and IL-10 Receptor (IL-10R) IL-11R (interleukin-11 receptor) IL-12 (Interleukin-12) and IL-12 receptor IL-13 (Interleukin-13) IL-13 Receptor (IL-13R) IL-15 (Interleukin-15)/IL-15 Receptor IL-17 (Interleukin 17) IL-17 Receptor (IL-17R) IL-18 (Interleukin-18) IL-2 (Interleukin-2) IL-2 Receptor (IL-2R) IL-20 (Interleukin-20) IL-21 (Interleukin-21) IL-22 (Interleukin-22) IL-23 (Interleukin-23) IL-24 (Interleukin-24)/ mda-7 IL-27 Receptor (IL-27R) IL-28 (Interleukin-28) IL-3 (Interleukin-3) IL-3 (Interleukin-3) Receptor/CD123 IL-31 (Interleukin-31) IL-33 (Interleukin-33)IL-33 Receptor IL-36/IL-36R (Interleukin-36/receptor) IL-4 (Interleukin-4) IL-4 Receptor (IL-4R) IL-5 (Interleukin-5) and IL-5 Receptor (IL-5R) IL-6 (Interleukin-6) IL-6 Receptor (IL-6R) IL-7 (Interleukin-7) and IL-7 receptor (IL-7R) IL-8 (Interleukin-8) IL-9 (Interleukin-9) IL22 Receptor (IL22R)/CRF2-9 Ileal Bile Acid Transporter (IBAT)/Apical Sodium-dependent Bile Acid Transporter (ASBT) Imidazoline-1 (I1) Receptor Immune system Immunoglobulin E (IgE) IMPDH I (Inosine Monophosphate Dehydrogenase 1) IMPDH II (Inosine Monophosphate Dehydrogenase 2) Influenza Viral Neuraminidase Influenza Virus Inositol-requiring enzyme 1a (IRE1a) Insect Respiration Insulin Receptor Insulin receptor substrate 1 (IRS-1) Insulin-Like Growth Factor Family Integrin Alpha 2 beta 1/VLA-2 Integrin Alpha-4 beta-1/VLA-4 Integrin Alpha-4 beta-7/LPAM Integrin Alpha-5 beta-1/Fibronectin Receptor Integrin Alpha-V Family Integrin alpha1beta1/Very Late Antigen 1 (VLA-1) Integrin beta-1/CD29 Integrin Beta-8 (ITGB8) Integrin-linked kinase (ILK) Integrins Intercellular Adhesion Molecule-1 (ICAM-1) Interferon Receptor Interferon-alpha (IFNa) Interferon-beta (IFNb) Interferon-gamma (IFN-g)/Type II Interferon Interleukin-1 receptor-associated kinase 4 (IRAK4) Interleukin-2-inducible T-cell kinase (ITK) Iron Isocitrate Dehydrogenase (IDH) Isoleucyl-tRNA synthetase (bacterial) JAK/STAT Japanese Encephalitis Virus JL1/JL-1 Junction Plakoblobin (JUP)/Gamma-Catenin Kainate Glutamate Receptor Kappa Myeloma Antigen Keratinocyte Growth Factor Receptor (KGFR) Kidney-associated antigen-1 (KAAG-1) Kinesin spindle protein (KSP) Kinin-Kallikrein System KIR (Killer Immunoglobulin-like Receptors) KIT/c-KIT Kruppel-like Factor 15 (KLF-15) Kruppel-like Factor 4 (KLF-4) Kruppel-like Factor 6 (KLF-6) Kruppel-like Factor 9 (KLF-9) Lactoferrin Receptor LAG3 (Lymphocyte-Activation Gene)/CD223 Laminin Receptor Late Sodium Current LCAT (Lecithin—cholesterol acyltransferase, phosphatidylcholine-sterol O-acyltransferase) LDL (low-density lipoprotein) Leptin Receptor (LepR) Leptospira Leucyl-tRNA synthetase (bacterial or fungal) Leukemia Inhibitory Factor Receptor (LIF-R) Leukotriene A4 hydrolase Leukotriene receptor/Thromboxane receptor Leukotriene-B4 Receptor (LTB4R) Leukotrienes Lewis-Y Antigen LGALS3BP LGR5 (Leucine-rich repeat-containing G-protein coupled receptor 5) LIGHT LINGO-1 Lipid Rafts Lipoprotein (a) Lipoprotein lipase Lipoprotein signal peptidase (LSP) Lipoprotein-Associated Phospholipase A2 (Lp-PLA2)/ Platelet Activating Factor Acetylhydrolase Lipoproteins LIV-1 (SLC39A6) Liver X Receptor Alpha (LXRA) Liver X Receptor Beta (LXRB) LpxC LRRK2 (leucine-rich repeat kinase 2) LTC4 synthase Luteinizing Hormone Receptor (LHR) Lymphocyte function-associated antigen 1 (LFA-1)/(CD11a) Lymphocytes Lymphotoxin Lyn kinase LYPD3/C4. 4a Lysine-specific demethylase-1 (LSD1)/KDM1A Lysophosphatidic acid receptor 1 (LPAR1) Lysophosphatidic acid receptor 3 (LPAR3) Lysosomal Cysteine Transporter Lysosomes Lysyl oxidase-like 2 (LOXL2) M2e Antigen (Influenza Virus) M2PK (pyruvate kinase) Macrophage Colony Stimulating Factor 1 (M-CSF1)/M-CSF Receptor/FMS/CD115/CSF-1/CSF1R Macrophage Migration Inhibitory Factor (MIF) Macrophages MAdCAM-1 (Mucosal addressin cell adhesion molecule-1) Major Histocompatibility Complex (MHC) MALT1 Mammalian Target of Rapamycin (mTOR)/mTORC Mannose Mannose-binding lectin (MBL) Mannose-binding lectin-Associated Serine Proteases (MASPs) Mannosidase MAPK1/ERK2 MAPK3/ERK1 Marburg virus MARCKS (Myristoylated alanine-rich C-kinase substrate) MAS G-protein coupled receptor Mast Cell Maternal Embryonic Leucine Zipper Kinase (MELK) Mdm2 Mdmx/Mdm4 Measles virus Melanin Melanin Concentrating Hormone Receptor-1 (MCHR1) Melanocortin (MC) receptors Melanoma antigen-encoding gene (MAGE) Melanoma Differentiation-Associated Protein 5/MDA5 Melatonin Receptor Mesothelin Metabotropic Glutamate Receptor 8 (mGluR8) Metabotropic Glutamate Receptor subtype 1 (mGluR1) Metabotropic Glutamate Receptor subtype 2 (mGluR2) Metabotropic Glutamate Receptor subtype 3 (mGluR3) Metabotropic Glutamate Receptor subtype 4 (mGluR4) Metabotropic Glutamate Receptor subtype 5 (mGluR5) Metabotropic Glutamate Receptor subtype 7 (mGluR7) Metal ions (e. g. , Ca2+, Cu2+, Zn2+, and Fe2/3+) Metal-responsive transcription factor-1 (MTF-1) Methionine aminopeptidase 2 (MetAP2) Methotrexate and Folate Analogues Mevalonate pathway Microbial DNA Microbiota (flora, microbiome) - intestinal Microsomal Triglyceride Transfer Protein (MTP) Microtubules (Tubulin) Migration inhibitory factor-related protein 14 (MRP14)/S100A9 Mineralcorticoid Receptor mIR-103/107 miR-122 miR-145 miR-15/195 miR-208 miR-21 miR-451 Mitochondria Mitochondrial Electron Transport Chain Mitochondrial Peripheral Benzodiazepine Receptor (PBR) Mitochondrial Target of Thiazolidinediones (mTOT) Mitochondrial Translocator Protein (TSPO) Mitogen-activated ERK kinase (MEK, MAPKK, MAP2K) Mitogen-activated protein kinase 7 (MAPK7/ERK5/BMK1) Mitogen-Activated Protein Kinase-Activated Protein Kinase 2 (MK2) Mitogen-Activated Protein Kinase-Activated Protein Kinase 5 (MK5) mitoNEET Mitotic Spindle MMP (metalloproteinase) MMP-12 or HME (matrix metalloproteinase inhibitor-12) MMP-2 (Metalloproteinase-2) Receptor Molybdenum cofactor synthesis proteins Monoamine oxidase A (MAO-A) Monoamine oxidase B (MAO-B) Monocarboxylate Transporter 1 (MCT1) Monocytes Monopolar spindle 1 (Mps1) Kinase Motilin / Motilin Receptor (MTLR or GPR38) mPGES-1 (microsomal prostaglandin E2 synthase-1) MSCRAMM MSRV-Env (Multiple Sclerosis associated retrovirus) MUC-18/Melanoma Cell Adhesion Molecule/CD146 Mucin 1 (MUC-1) Mucin 5AC (MUC5AC) Mucosal Lubrication Multidrug Resistance Protein 1 (MRP1/ABCC1) Mumps virus Muscarinic acetylcholine receptor Muscarinic M1 receptor Mycobacterial DNA Myelin Myelin Basic Protein (MBP) Myelin-Associated Glycoprotein (MAG) Myeloperoxidase (MPO) Myosin Myosin ATPase Myosin VIIA Myostatin/GDF-8 Myotonic dystrophy protein kinase (DMPK) gene N-Acetylated-Alpha-Linked-Acid-Dipeptidase (NAALADase) N-Acetylgalactosamine 4-sulfatase N-Acetylgalactosamine-6-Sulfate Sulfatase.
Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S: Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease. Diagn Pathol 2011, 6:11. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text.