Details for: SGSH

Gene ID: 6448

Symbol: SGSH

Ensembl ID: ENSG00000181523

Description: N-sulfoglucosamine sulfohydrolase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 56.1894
    Cell Significance Index: -8.7400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.0886
    Cell Significance Index: -8.9000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.1049
    Cell Significance Index: -8.7600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.2924
    Cell Significance Index: -8.8200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.0048
    Cell Significance Index: 80.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.2377
    Cell Significance Index: -8.8300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.0638
    Cell Significance Index: 33.1100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.0544
    Cell Significance Index: -6.3100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.3570
    Cell Significance Index: -2.9700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.2622
    Cell Significance Index: 20.8000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9542
    Cell Significance Index: 861.5400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7261
    Cell Significance Index: 78.9800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6289
    Cell Significance Index: 102.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3919
    Cell Significance Index: 27.1000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3520
    Cell Significance Index: 7.6300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2922
    Cell Significance Index: 5.4000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2874
    Cell Significance Index: 14.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2748
    Cell Significance Index: 32.0300
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.2528
    Cell Significance Index: 0.5700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2473
    Cell Significance Index: 11.2100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2449
    Cell Significance Index: 6.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2228
    Cell Significance Index: 6.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2133
    Cell Significance Index: 5.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1921
    Cell Significance Index: 19.0100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1828
    Cell Significance Index: 25.1100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1790
    Cell Significance Index: 2.8400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1648
    Cell Significance Index: 32.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1501
    Cell Significance Index: 7.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1468
    Cell Significance Index: 26.4600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1216
    Cell Significance Index: 3.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1183
    Cell Significance Index: 64.5900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1126
    Cell Significance Index: 2.9600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1016
    Cell Significance Index: 19.3300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0912
    Cell Significance Index: 40.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0837
    Cell Significance Index: 1.4000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0766
    Cell Significance Index: 15.3600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0660
    Cell Significance Index: 4.6700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0648
    Cell Significance Index: 1.7700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0567
    Cell Significance Index: 6.9700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0516
    Cell Significance Index: 6.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0456
    Cell Significance Index: 16.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0359
    Cell Significance Index: 1.6900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0266
    Cell Significance Index: 0.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0232
    Cell Significance Index: 3.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0178
    Cell Significance Index: 0.3800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0152
    Cell Significance Index: 0.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0142
    Cell Significance Index: 1.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0097
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0090
    Cell Significance Index: 16.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0047
    Cell Significance Index: 0.6100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0024
    Cell Significance Index: 1.5000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0021
    Cell Significance Index: 1.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0000
    Cell Significance Index: 0.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0003
    Cell Significance Index: -0.5500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0019
    Cell Significance Index: -0.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0023
    Cell Significance Index: -3.5900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0049
    Cell Significance Index: -0.5800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0059
    Cell Significance Index: -8.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0073
    Cell Significance Index: -5.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0086
    Cell Significance Index: -0.8800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0103
    Cell Significance Index: -7.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0126
    Cell Significance Index: -5.7000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0136
    Cell Significance Index: -0.8600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0151
    Cell Significance Index: -8.5200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0159
    Cell Significance Index: -9.9400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0221
    Cell Significance Index: -3.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0237
    Cell Significance Index: -6.8300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0259
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0466
    Cell Significance Index: -9.8200
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.0477
    Cell Significance Index: -0.3000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0497
    Cell Significance Index: -1.0300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0538
    Cell Significance Index: -4.1300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0580
    Cell Significance Index: -0.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0604
    Cell Significance Index: -1.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0619
    Cell Significance Index: -2.1500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0659
    Cell Significance Index: -4.0400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0734
    Cell Significance Index: -1.0300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0734
    Cell Significance Index: -0.9400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0771
    Cell Significance Index: -1.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0778
    Cell Significance Index: -8.1000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0897
    Cell Significance Index: -2.5700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0925
    Cell Significance Index: -4.6800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0984
    Cell Significance Index: -5.5200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1041
    Cell Significance Index: -2.1800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1097
    Cell Significance Index: -8.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1106
    Cell Significance Index: -7.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1149
    Cell Significance Index: -7.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1183
    Cell Significance Index: -3.7900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1200
    Cell Significance Index: -3.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1201
    Cell Significance Index: -7.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1274
    Cell Significance Index: -6.6900
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1282
    Cell Significance Index: -1.0900
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.1326
    Cell Significance Index: -0.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1347
    Cell Significance Index: -4.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1354
    Cell Significance Index: -5.9900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1441
    Cell Significance Index: -3.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1499
    Cell Significance Index: -7.8100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1519
    Cell Significance Index: -2.9700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1526
    Cell Significance Index: -5.7800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1793
    Cell Significance Index: -5.8700

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.

Other Information

**Key Characteristics:** 1. **Enzyme Function:** SGSH is a lysosomal enzyme responsible for the hydrolysis of N-sulfoglucosamine, a key intermediate in the synthesis of heparan sulfate (HS) and other GAGs. 2. **Expression Pattern:** SGSH is expressed in various cell types, including pulmonary interstitial fibroblasts, cerebral cortex GABAergic interneurons, and intestinal epithelial cells, highlighting its widespread role in maintaining tissue homeostasis. 3. **Pathway Involvement:** SGSH is involved in multiple pathways, including glycosaminoglycan catabolic process, glycosaminoglycan metabolism, and heparan sulfate/heparin metabolism, underscoring its central role in regulating GAG levels and function. **Pathways and Functions:** 1. **Glycosaminoglycan Catabolic Process:** SGSH plays a crucial role in the degradation of GAGs, which are essential for maintaining tissue structure and function. The enzyme's activity regulates the levels of GAGs, such as heparan sulfate and dermatan sulfate, and influences their interactions with growth factors, cytokines, and other molecules. 2. **Glycosaminoglycan Metabolism:** SGSH is involved in the regulation of GAG biosynthesis and degradation, influencing the balance between these two processes. This balance is crucial for maintaining tissue homeostasis and preventing the accumulation of GAGs, which can lead to cellular dysfunction and disease. 3. **Heparan Sulfate/Heparin Metabolism:** SGSH is essential for the degradation of heparan sulfate and heparin, two important GAGs that play critical roles in various biological processes, including cell signaling, cell adhesion, and blood coagulation. **Clinical Significance:** 1. **Mucopolysaccharidoses:** Mutations in the SGSH gene have been associated with Sanfilippo syndrome A, a type of mucopolysaccharidosis characterized by the accumulation of GAGs and progressive neurological deterioration. 2. **Glycosaminoglycan-Related Diseases:** SGSH dysfunction has been implicated in various diseases, including heparan sulfate/heparin deficiency and dermatan sulfate deficiency, which can lead to cardiovascular and other complications. 3. **Cancer and Metastasis:** The regulation of GAGs by SGSH is critical for maintaining tissue architecture and preventing cancer metastasis. Dysregulation of SGSH activity has been linked to cancer progression and poor prognosis. In conclusion, N-sulfoglucosamine sulfohydrolase (SGSH) is a vital enzyme that plays a central role in maintaining glycosaminoglycan metabolism and cellular homeostasis. Its dysregulation has been implicated in various diseases, including mucopolysaccharidoses, glycosaminoglycan-related diseases, and cancer. Further research is necessary to fully understand the mechanisms underlying SGSH function and its clinical significance, with the ultimate goal of developing effective therapeutic strategies for SGSH-related disorders.

Genular Protein ID: 3262093070

Symbol: SPHM_HUMAN

Name: N-sulphoglucosamine sulphohydrolase

UniProtKB Accession Codes:

P51688 A8K5E2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 10 DNASU 1 DisGeNET 1 EC 1 EMBL 8 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 1 SIGNOR 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: 7493035

Title: Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

PubMed ID: 7493035

DOI: 10.1038/ng1295-465

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

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: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24816101

Title: Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

PubMed ID: 24816101

DOI: 10.1107/s1399004714002739

PubMed ID: 9158154

Title: Molecular defects in Sanfilippo syndrome type A.

PubMed ID: 9158154

DOI: 10.1093/hmg/6.5.787

PubMed ID: 9285796

Title: Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

PubMed ID: 9285796

DOI: 10.1093/hmg/6.9.1573

PubMed ID: 9401012

Title: Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).

PubMed ID: 9401012

DOI: 10.1002/(sici)1098-1004(1997)10:6<479::aid-humu10>3.0.co;2-x

PubMed ID: 9554748

Title: Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

PubMed ID: 9554748

DOI: 10.1002/(sici)1098-1004(1998)11:4<313::aid-humu9>3.0.co;2-p

PubMed ID: 9744479

Title: Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

PubMed ID: 9744479

DOI: 10.1002/(sici)1098-1004(1998)12:4<274::aid-humu9>3.0.co;2-f

PubMed ID: 11182930

Title: Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

PubMed ID: 11182930

DOI: 10.1136/jmg.37.9.704

PubMed ID: 12000360

Title: Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).

PubMed ID: 12000360

DOI: 10.1034/j.1399-0004.2002.610304.x

PubMed ID: 11793481

Title: Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B.

PubMed ID: 11793481

DOI: 10.1002/humu.9009

PubMed ID: 12702166

Title: Analysis of Sanfilippo A gene mutations in a large pedigree.

PubMed ID: 12702166

DOI: 10.1034/j.1399-0004.2003.00053.x

PubMed ID: 15146460

Title: Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

PubMed ID: 15146460

DOI: 10.1002/humu.20037

PubMed ID: 15637719

Title: An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

PubMed ID: 15637719

DOI: 10.1002/ajmg.a.30552

PubMed ID: 15902564

Title: Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

PubMed ID: 15902564

DOI: 10.1007/s10545-005-0601-0

PubMed ID: 17128482

Title: Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.

PubMed ID: 17128482

PubMed ID: 16311287

Title: Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.

PubMed ID: 16311287

DOI: 10.1093/humrep/dei382

PubMed ID: 18407553

Title: The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

PubMed ID: 18407553

DOI: 10.1002/humu.20738

PubMed ID: 21671382

Title: Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

PubMed ID: 21671382

DOI: 10.1002/ajmg.a.34053

PubMed ID: 28101780

Title: Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

PubMed ID: 28101780

DOI: 10.1007/s12519-017-0005-x

Sequence Information:

  • Length: 502
  • Mass: 56695
  • Checksum: 90C5CDAB4DCC3808
  • Sequence:
    • MSCPVPACCA LLLVLGLCRA RPRNALLLLA DDGGFESGAY NNSAIATPHL DALARRSLLF 
RNAFTSVSSC SPSRASLLTG LPQHQNGMYG LHQDVHHFNS FDKVRSLPLL LSQAGVRTGI 
IGKKHVGPET VYPFDFAYTE ENGSVLQVGR NITRIKLLVR KFLQTQDDRP FFLYVAFHDP 
HRCGHSQPQY GTFCEKFGNG ESGMGRIPDW TPQAYDPLDV LVPYFVPNTP AARADLAAQY 
TTVGRMDQGV GLVLQELRDA GVLNDTLVIF TSDNGIPFPS GRTNLYWPGT AEPLLVSSPE 
HPKRWGQVSE AYVSLLDLTP TILDWFSIPY PSYAIFGSKT IHLTGRSLLP ALEAEPLWAT 
VFGSQSHHEV TMSYPMRSVQ HRHFRLVHNL NFKMPFPIDQ DFYVSPTFQD LLNRTTAGQP 
TGWYKDLRHY YYRARWELYD RSRDPHETQN LATDPRFAQL LEMLRDQLAK WQWETHDPWV 
CAPDGVLEEK LSPQCQPLHN EL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.