Details for: ARSB

Gene ID: 411

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ARSB

Ensembl ID: ENSG00000113273

Description: arylsulfatase B

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • epithelial cell of proximal tubule CL0002306
    CSI 12.47
    rCSI 30.45%
    PRS 72.77
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 11.15
    rCSI 13.47%
    PRS 87.53
  • glial cell CL0000125
    CSI 8.96
    rCSI 34.11%
    PRS 71.34
  • cerebral cortex endothelial cell CL1001602
    CSI 6.93
    rCSI 11.98%
    PRS 72.06
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 6.24
    rCSI 23.58%
    PRS 63.01
  • Kupffer cell CL0000091
    CSI 5.61
    rCSI 12.83%
    PRS 81.05
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 5.51
    rCSI 6.86%
    PRS 60.44
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 5.44
    rCSI 9.14%
    PRS 62.49
  • amacrine cell CL0000561
    CSI 5.19
    rCSI 15.05%
    PRS 69.95
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 4.61
    rCSI 5.32%
    PRS 72.51
  • retinal ganglion cell CL0000740
    CSI 4.53
    rCSI 10%
    PRS 66.2
  • mononuclear phagocyte CL0000113
    CSI 4.52
    rCSI 9.94%
    PRS 83.97
  • retinal bipolar neuron CL0000748
    CSI 3.96
    rCSI 7.41%
    PRS 68.87
  • retinal cone cell CL0000573
    CSI 3.85
    rCSI 6.19%
    PRS 70.56
  • lung interstitial macrophage CL4033043
    CSI 3.73
    rCSI 8.37%
    PRS 91.54
  • VIP GABAergic cortical interneuron CL4023016
    CSI 3.5
    rCSI 4.18%
    PRS 62.61
  • mature T cell CL0002419
    CSI 3.46
    rCSI 2.69%
    PRS 92.84
  • melanocyte CL0000148
    CSI 3.37
    rCSI 2.5%
    PRS 74.02
  • lung macrophage CL1001603
    CSI 3.15
    rCSI 7.03%
    PRS 87.09
  • cerebellar granule cell CL0001031
    CSI 3.13
    rCSI 4.6%
    PRS 73.36
  • inhibitory interneuron CL0000498
    CSI 3.09
    rCSI 7.13%
    PRS 68.39
  • ependymal cell CL0000065
    CSI 3.07
    rCSI 6.24%
    PRS 58.99
  • sst GABAergic cortical interneuron CL4023017
    CSI 3.07
    rCSI 3.96%
    PRS 63.64
  • interneuron CL0000099
    CSI 3.04
    rCSI 6.11%
    PRS 70.67
  • kidney connecting tubule epithelial cell CL1000768
    CSI 3.02
    rCSI 7.65%
    PRS 70.89
  • retinal pigment epithelial cell CL0002586
    CSI 2.99
    rCSI 5.95%
    PRS 76.08
  • choroid plexus epithelial cell CL0000706
    CSI 2.95
    rCSI 4.83%
    PRS 69.97
  • neural crest cell CL0011012
    CSI 2.94
    rCSI 2.32%
    PRS 69.29
  • alveolar macrophage CL0000583
    CSI 2.86
    rCSI 4.72%
    PRS 84.06
  • hepatic stellate cell CL0000632
    CSI 2.72
    rCSI 10.19%
    PRS 72.92
  • vascular leptomeningeal cell CL4023051
    CSI 2.66
    rCSI 4.66%
    PRS 74.34
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 2.56
    rCSI 6.68%
    PRS 81.33
  • sncg GABAergic cortical interneuron CL4023015
    CSI 2.53
    rCSI 4.06%
    PRS 64.07
  • retinal blood vessel endothelial cell CL0002585
    CSI 2.51
    rCSI 4.02%
    PRS 83.89
  • Mueller cell CL0000636
    CSI 2.45
    rCSI 5.6%
    PRS 71.9
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 2.36
    rCSI 4.17%
    PRS 61.86
  • hepatocyte CL0000182
    CSI 2.28
    rCSI 4.08%
    PRS 79.53
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.18
    rCSI 4.9%
    PRS 63.34
  • intermediate monocyte CL0002393
    CSI 2.15
    rCSI 3.25%
    PRS 85.43
  • chondrocyte CL0000138
    CSI 2.13
    rCSI 3.38%
    PRS 73.5
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 2.11
    rCSI 3.83%
    PRS 71.91
  • Bergmann glial cell CL0000644
    CSI 2.09
    rCSI 2.85%
    PRS 71.86
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.01
    rCSI 2.85%
    PRS 77.07
  • BEST4+ enteroycte CL4030026
    CSI 2
    rCSI 2.48%
    PRS 81.23
  • adipocyte CL0000136
    CSI 1.97
    rCSI 2.53%
    PRS 70.55
  • elicited macrophage CL0000861
    CSI 1.95
    rCSI 1.79%
    PRS 87.6
  • CD14-positive monocyte CL0001054
    CSI 1.94
    rCSI 2.41%
    PRS 88.94
  • regular ventricular cardiac myocyte CL0002131
    CSI 1.92
    rCSI 11.97%
    PRS 72.12
  • cardiac muscle cell CL0000746
    CSI 1.87
    rCSI 2.68%
    PRS 70.25
  • direct pathway medium spiny neuron CL4023026
    CSI 1.85
    rCSI 44.23%
    PRS 60.85
  • indirect pathway medium spiny neuron CL4023029
    CSI 1.81
    rCSI 43.69%
    PRS 61.42
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 1.78
    rCSI 4.32%
    PRS 60.52
  • melanocyte of skin CL1000458
    CSI 1.74
    rCSI 2.37%
    PRS 47.53
  • Hofbauer cell CL3000001
    CSI 1.73
    rCSI 3.27%
    PRS 87.93
  • renal beta-intercalated cell CL0002201
    CSI 1.73
    rCSI 4.11%
    PRS 80.46
  • renal interstitial pericyte CL1001318
    CSI 1.72
    rCSI 4.73%
    PRS 75.52
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.64
    rCSI 4.24%
    PRS 75.83
  • dendritic cell, human CL0001056
    CSI 1.59
    rCSI 2.44%
    PRS 88.42
  • L6b glutamatergic cortical neuron CL4023038
    CSI 1.59
    rCSI 4.97%
    PRS 64.2
  • blood vessel smooth muscle cell CL0019018
    CSI 1.57
    rCSI 12.75%
    PRS 74.7
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.56
    rCSI 3.72%
    PRS 67.33
  • common dendritic progenitor CL0001029
    CSI 1.53
    rCSI 1.92%
    PRS 88.4
  • macroglial cell CL0000126
    CSI 1.52
    rCSI 3.9%
    PRS 77.05
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 1.46
    rCSI 1.12%
    PRS 83.25
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 1.41
    rCSI 5.08%
    PRS 60.44
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 1.39
    rCSI 4.34%
    PRS 66.5
  • myeloid dendritic cell CL0000782
    CSI 1.34
    rCSI 1.94%
    PRS 91.95
  • glutamatergic neuron CL0000679
    CSI 1.25
    rCSI 2.56%
    PRS 67.79
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 1.18
    rCSI 6.94%
    PRS 63.24
  • GABAergic neuron CL0000617
    CSI 1.17
    rCSI 3.93%
    PRS 64.25
  • parietal epithelial cell CL1000452
    CSI 1.02
    rCSI 2.74%
    PRS 72.15
  • GABAergic amacrine cell CL4030027
    CSI 0.93
    rCSI 3.17%
    PRS 66.67
  • neural progenitor cell CL0011020
    CSI 0.92
    rCSI 4.05%
    PRS 68.93
  • diffuse bipolar 3b cell CL4033030
    CSI 0.84
    rCSI 5.59%
    PRS 75.14
  • H2 horizontal cell CL0004218
    CSI 0.73
    rCSI 3.63%
    PRS 75.13
  • diffuse bipolar 3a cell CL4033029
    CSI 0.68
    rCSI 4.63%
    PRS 73.13
  • colon macrophage CL0009038
    CSI 0.67
    rCSI 3.1%
    PRS 91.59
  • eosinophil CL0000771
    CSI 0.56
    rCSI 3.65%
    PRS 94.43
  • central nervous system neuron CL2000029
    CSI 0.53
    rCSI 3.86%
    PRS 67.88
  • medium spiny neuron CL1001474
    CSI 0.28
    rCSI 2.41%
    PRS 68.68

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary Arylsulfatase B, encoded by the [ARSB](/details-gene/411) gene, is a lysosomal hydrolase essential for the degradation of specific glycosaminoglycans (GAGs), namely dermatan sulfate and chondroitin-4-sulfate. Its primary molecular function is N-acetylgalactosamine-4-sulfatase activity ([GO:0003943](https://www.ebi.ac.uk/QuickGO/term/GO:0003943)). Deficiencies in [ARSB](/details-gene/411) function lead to the lysosomal storage disorder Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), a severe metabolic disease cataloged under OMIM entry [253200](https://omim.org/entry/253200). **Overall**, expression data reveals that [ARSB](/details-gene/411) is a significantly active gene across a diverse array of cell types, with particularly high significance in [epithelial cells of the proximal tubule](/details-cell/CL0002306), [CD1c-positive myeloid dendritic cells](/details-cell/CL0002399), and various neural cell types including [glial cells](/details-cell/CL0000125) and neurons. This broad expression pattern underscores its fundamental role in cellular homeostasis and extracellular matrix turnover in multiple organ systems. ## Cellular Roles and Expression Landscape The expression profile of [ARSB](/details-gene/411) indicates a vital role in cells with high metabolic and degradative activity. Its highest significance is observed in [epithelial cells of the proximal tubule](/details-cell/CL0002306) (CSI: 12.47), suggesting a critical function in renal physiology, likely related to the processing of components filtered through the glomerulus. Beyond the kidney, [ARSB](/details-gene/411) is a key gene in several immune cell populations. It shows high significance in antigen-presenting cells such as [CD1c-positive myeloid dendritic cells](/details-cell/CL0002399) (CSI: 11.15) and tissue-resident macrophages like [Kupffer cells](/details-cell/CL0000091) (CSI: 5.61) and [lung interstitial macrophages](/details-cell/CL4033043) (CSI: 3.73). This is consistent with its annotated involvement in the [Innate immune system](/details-detail/R-HSA-168249) and specifically [Neutrophil degranulation](/details-detail/R-HSA-6798695), where lysosomal enzymes are crucial for host defense and tissue remodeling. A third major functional context for [ARSB](/details-gene/411) is the nervous system. The gene is highly significant in [glial cells](/details-cell/CL0000125) (CSI: 8.96) as well as a variety of neuronal subtypes, including [near-projecting glutamatergic cortical neurons](/details-cell/CL4023012) (CSI: 6.24) and GABAergic interneurons. Its activity in retinal cells, such as [amacrine cells](/details-cell/CL0000561) and [retinal ganglion cells](/details-cell/CL0000740), further highlights its importance in maintaining the complex extracellular environment of neural tissues. ## Pathways and Molecular Function The primary function of [ARSB](/details-gene/411) is its arylsulfatase activity ([GO:0004065](https://www.ebi.ac.uk/QuickGO/term/GO:0004065)), which is integral to the catabolism of GAGs. This role is central to the [Chondroitin sulfate/dermatan sulfate metabolism](/details-detail/R-HSA-1793185) pathway. As a lysosomal enzyme, its function and localization are tied to the [Lysosome](/details-detail/GO:0005764) and the broader processes of [Lysosomal transport](/details-detail/GO:0007041) and [Lysosome organization](/details-detail/GO:0007040). The gene product requires post-translational modification for activation, a process detailed in [The activation of arylsulfatases](/details-detail/R-HSA-1663150), which is critical for its enzymatic function. The clinical relevance of [ARSB](/details-gene/411) is explicitly linked to metabolic diseases, particularly [Mucopolysaccharidoses](/details-detail/R-HSA-2206281), with its deficiency being the direct cause of [Mps vi - maroteaux-lamy syndrome](/details-detail/R-HSA-2206285). Beyond its core metabolic role, functional annotations suggest broader involvement in cellular processes. Its participation in the regulation of [Colon epithelial cell migration](/details-detail/GO:0061580) ([Link](https://doi.org/10.1007/s10585-009-9253-z)) and [Positive regulation of neuron projection development](/details-detail/GO:0010976) points to a role in modulating cell-matrix interactions that influence tissue structure and development. ## Research Directions Given the widespread yet specific significance of [ARSB](/details-gene/411), research can be directed toward understanding its tissue-specific roles beyond its known function in GAG catabolism. ### Proposed Hypotheses: 1. **Hypothesis 1:** The high significance of [ARSB](/details-gene/411) in diverse neuronal and glial populations suggests that it plays a critical role in synaptic maintenance and plasticity by remodeling the perineuronal net and other extracellular matrix components. Its dysregulation could therefore be a contributing factor to the progression of neurodegenerative diseases characterized by extracellular matrix abnormalities. 2. **Hypothesis 2:** In the context of immunity, [ARSB](/details-gene/411) activity in dendritic cells and macrophages may be essential for proper antigen processing and presentation. Degradation of GAG-rich proteoglycans within the endo-lysosomal pathway could be a necessary step for the efficient processing of certain extracellular antigens before loading onto MHC molecules. ### Key Experiment: To test the hypothesis regarding the role of [ARSB](/details-gene/411) in the central nervous system (Hypothesis 1), a conditional knockout mouse model could be generated using a Cre-Lox system to specifically delete [ARSB](/details-gene/411) in mature neurons (e.g., using a CamKII-Cre driver). These mice, alongside wild-type controls, would undergo a battery of behavioral tests to assess cognitive function and memory. Subsequent histological analysis of brain tissue would involve staining for perineuronal net components (e.g., Wisteria floribunda agglutinin) and synaptic markers (e.g., PSD-95, synaptophysin) to quantify changes in ECM structure and synaptic density. Mass spectrometry could be used to profile the accumulation of specific GAGs in brain tissue lysates. ### Therapeutic Potential: As [ARSB](/details-gene/411) deficiency is the cause of a lysosomal storage disease, its therapeutic potential lies in **activation or replacement**, not inhibition. The established clinical approach for Maroteaux-Lamy syndrome is enzyme replacement therapy (ERT), where a recombinant form of the ARSB enzyme is administered intravenously. Future therapeutic strategies could involve gene therapy to provide a permanent source of functional [ARSB](/details-gene/411) to affected cells, potentially offering a more durable solution than regular ERT infusions. Improving the delivery of the enzyme across the blood-brain barrier remains a key challenge for treating the neurological manifestations of the disease.

Genular Protein ID: 1737859220

Symbol: ARSB_HUMAN

Name: Arylsulfatase B

UniProtKB Accession Codes:

P15848 B2RC20 Q8N322 Q9UDI9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 EC 2 EMBL 18 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2303452

Title: Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.

PubMed ID: 2303452

DOI: 10.1016/s0021-9258(19)39778-9

PubMed ID: 1968043

Title: Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

PubMed ID: 1968043

DOI: 10.1016/0888-7543(90)90460-c

PubMed ID: 7687847

Title: Structure of the human arylsulfatase B gene.

PubMed ID: 7687847

DOI: 10.1515/bchm3.1993.374.1-6.327

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1930244

Title: Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.

PubMed ID: 1930244

PubMed ID: 1390929

Title: Components and proteolytic processing sites of arylsulfatase B from human placenta.

PubMed ID: 1390929

DOI: 10.1016/0167-4838(92)90051-e

PubMed ID: 7628016

Title: A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.

PubMed ID: 7628016

DOI: 10.1016/0092-8674(95)90314-3

PubMed ID: 15146462

Title: Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

PubMed ID: 15146462

DOI: 10.1002/humu.20040

PubMed ID: 19306108

Title: Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.

PubMed ID: 19306108

DOI: 10.1007/s10585-009-9253-z

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 9032078

Title: Structure of a human lysosomal sulfatase.

PubMed ID: 9032078

DOI: 10.1016/s0969-2126(97)00185-8

PubMed ID: 1718978

Title: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

PubMed ID: 1718978

DOI: 10.1016/s0021-9258(18)54649-4

PubMed ID: 1550123

Title: Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

PubMed ID: 1550123

PubMed ID: 8116615

Title: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

PubMed ID: 8116615

PubMed ID: 8125475

Title: Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

PubMed ID: 8125475

DOI: 10.1007/bf00212019

PubMed ID: 8541342

Title: N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.

PubMed ID: 8541342

DOI: 10.1016/0925-4439(95)00070-4

PubMed ID: 8651289

Title: Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS6 patients.

PubMed ID: 8651289

PubMed ID: 10206678

Title: Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis.

PubMed ID: 10206678

DOI: 10.1002/(sici)1098-1004(1998)11:5<410::aid-humu9>3.0.co;2-q

PubMed ID: 9582121

Title: Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.

PubMed ID: 9582121

DOI: 10.1126/science.280.5366.1077

PubMed ID: 10036316

Title: Maroteaux-Lamy syndrome: five novel mutations and their structural localization.

PubMed ID: 10036316

DOI: 10.1016/s0925-4439(98)00099-4

PubMed ID: 10738004

Title: A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

PubMed ID: 10738004

DOI: 10.1002/(sici)1098-1004(200004)15:4<389::aid-humu31>3.0.co;2-0

PubMed ID: 11802522

Title: Mucopolysaccharidosis type VI: report of two Taiwanese patients and identification of one novel mutation.

PubMed ID: 11802522

PubMed ID: 14974081

Title: Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

PubMed ID: 14974081

DOI: 10.1002/humu.10313

PubMed ID: 19259130

Title: Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

PubMed ID: 19259130

DOI: 10.1038/ejhg.2009.19

Sequence Information:

  • Length: 533
  • Mass: 59687
  • Checksum: 5983FB6911C4789A
  • Sequence:
    • MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV 
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS 
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER 
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS 
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD 
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL 
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP 
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD 
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM

Genular Protein ID: 3146334092

Symbol: A8K4A0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K4A0

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 2 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 1 SUPFAM 1

Sequence Information:

  • Length: 413
  • Mass: 46028
  • Checksum: D4B6A96052E6FC68
  • Sequence:
    • MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV 
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS 
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER 
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS 
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD 
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL 
ARGHTNGTKP LDGFDMWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL