Gene GUSB - ENSG00000169919 | NCBI Gene ID: 2990

Details for: GUSB

Gene ID: 2990

Symbol: GUSB

Ensembl ID: ENSG00000169919

Description: glucuronidase beta

Associated with

Disease
(R-HSA-1643685)
Diseases of carbohydrate metabolism
(R-HSA-5663084)
Diseases of metabolism
(R-HSA-5668914)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Heparan sulfate/heparin (hs-gag) metabolism
(R-HSA-1638091)
Hs-gag degradation
(R-HSA-2024096)
Hyaluronan metabolism
(R-HSA-2142845)
Hyaluronan uptake and degradation
(R-HSA-2160916)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Mps vii - sly syndrome
(R-HSA-2206292)
Mucopolysaccharidoses
(R-HSA-2206281)
Neutrophil degranulation
(R-HSA-6798695)
Azurophil granule lumen
(GO:0035578)
Beta-glucuronidase activity
(GO:0004566)
Carbohydrate binding
(GO:0030246)
Carbohydrate metabolic process
(GO:0005975)
Chondroitin sulfate catabolic process
(GO:0030207)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Ficolin-1-rich granule lumen
(GO:1904813)
Glucuronoside catabolic process
(GO:0019391)
Glycosaminoglycan catabolic process
(GO:0006027)
Heparan sulfate proteoglycan catabolic process
(GO:0030200)
Hyaluronan catabolic process
(GO:0030214)
Intracellular membrane-bounded organelle
(GO:0043231)
Lysosomal lumen
(GO:0043202)
Membrane
(GO:0016020)
Protein domain specific binding
(GO:0019904)
Signaling receptor binding
(GO:0005102)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: alveolar macrophage (CL0000583)
Fold Change: 1.62
Marker Score: 41581
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 1.58
Marker Score: 1913
Cell Name: Kupffer cell (CL0000091)
Fold Change: 1.53
Marker Score: 1533
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 1.53
Marker Score: 1596
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.53
Marker Score: 3484
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 1.5
Marker Score: 4137
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 1.48
Marker Score: 5799
Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 1.44
Marker Score: 535
Cell Name: cord blood hematopoietic stem cell (CL2000095)
Fold Change: 1.42
Marker Score: 1075
Cell Name: decidual cell (CL2000002)
Fold Change: 1.42
Marker Score: 6134
Cell Name: preosteoblast (CL0007010)
Fold Change: 1.4
Marker Score: 397
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 1.4
Marker Score: 2719
Cell Name: Hofbauer cell (CL3000001)
Fold Change: 1.34
Marker Score: 739
Cell Name: dendritic cell, human (CL0001056)
Fold Change: 1.3
Marker Score: 1328
Cell Name: erythroid progenitor cell, mammalian (CL0001066)
Fold Change: 1.28
Marker Score: 409
Cell Name: plasmablast (CL0000980)
Fold Change: 1.2
Marker Score: 1599
Cell Name: mucous neck cell (CL0000651)
Fold Change: 1.2
Marker Score: 2728
Cell Name: lung macrophage (CL1001603)
Fold Change: 1.18
Marker Score: 1352
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 1.17
Marker Score: 65704
Cell Name: primordial germ cell (CL0000670)
Fold Change: 1.17
Marker Score: 1467
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.15
Marker Score: 1693
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.14
Marker Score: 534
Cell Name: Unknown (CL0000548)
Fold Change: 1.14
Marker Score: 829
Cell Name: stem cell (CL0000034)
Fold Change: 1.13
Marker Score: 2685
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 1.13
Marker Score: 846
Cell Name: promyelocyte (CL0000836)
Fold Change: 1.1
Marker Score: 546
Cell Name: proerythroblast (CL0000547)
Fold Change: 1.1
Marker Score: 748
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 1.1
Marker Score: 318
Cell Name: peptic cell (CL0000155)
Fold Change: 1.1
Marker Score: 461
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 1.1
Marker Score: 606
Cell Name: cell in vitro (CL0001034)
Fold Change: 1.1
Marker Score: 38000.5
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 1.1
Marker Score: 2731
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.09
Marker Score: 694
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.08
Marker Score: 733
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 1.07
Marker Score: 1074
Cell Name: large pre-B-II cell (CL0000957)
Fold Change: 1.06
Marker Score: 2891.5
Cell Name: non-classical monocyte (CL0000875)
Fold Change: 1.06
Marker Score: 2552
Cell Name: adventitial cell (CL0002503)
Fold Change: 1.04
Marker Score: 258
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 1.04
Marker Score: 1079
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 1.04
Marker Score: 2545
Cell Name: late promyelocyte (CL0002151)
Fold Change: 1.02
Marker Score: 256
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 1.01
Marker Score: 954
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 1.01
Marker Score: 3878
Cell Name: keratocyte (CL0002363)
Fold Change: 1
Marker Score: 231
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71612
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 0.99
Marker Score: 47838
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 0.99
Marker Score: 3107
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30370
Cell Name: hepatocyte (CL0000182)
Fold Change: 0.97
Marker Score: 665
Cell Name: reticular cell (CL0000432)
Fold Change: 0.96
Marker Score: 352
Cell Name: enterocyte (CL0000584)
Fold Change: 0.96
Marker Score: 4608
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.96
Marker Score: 597
Cell Name: conventional dendritic cell (CL0000990)
Fold Change: 0.95
Marker Score: 653
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 0.95
Marker Score: 629
Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.94
Marker Score: 5717.5
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.94
Marker Score: 224
Cell Name: erythroblast (CL0000765)
Fold Change: 0.94
Marker Score: 585
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2381
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.93
Marker Score: 625
Cell Name: endothelial cell of sinusoid (CL0002262)
Fold Change: 0.93
Marker Score: 226
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 0.93
Marker Score: 1432
Cell Name: osteoblast (CL0000062)
Fold Change: 0.92
Marker Score: 493
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.91
Marker Score: 471
Cell Name: stromal cell (CL0000499)
Fold Change: 0.91
Marker Score: 1070.5
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.91
Marker Score: 1903
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.91
Marker Score: 6775
Cell Name: kidney cell (CL1000497)
Fold Change: 0.91
Marker Score: 607
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 0.91
Marker Score: 808
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.9
Marker Score: 1438
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.9
Marker Score: 2708
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.9
Marker Score: 427
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.9
Marker Score: 362
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.9
Marker Score: 5110
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 0.9
Marker Score: 437
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 0.89
Marker Score: 760
Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
Fold Change: 0.89
Marker Score: 646
Cell Name: pro-T cell (CL0000827)
Fold Change: 0.89
Marker Score: 3640
Cell Name: common dendritic progenitor (CL0001029)
Fold Change: 0.89
Marker Score: 306
Cell Name: hematopoietic precursor cell (CL0008001)
Fold Change: 0.89
Marker Score: 310
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.88
Marker Score: 234
Cell Name: alternatively activated macrophage (CL0000890)
Fold Change: 0.88
Marker Score: 368
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.88
Marker Score: 1359
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 0.88
Marker Score: 2276
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 0.87
Marker Score: 1199
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5287
Cell Name: chondrocyte (CL0000138)
Fold Change: 0.87
Marker Score: 391
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.87
Marker Score: 1244
Cell Name: granulocyte (CL0000094)
Fold Change: 0.86
Marker Score: 386
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.86
Marker Score: 351
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.86
Marker Score: 300
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.85
Marker Score: 306
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 0.85
Marker Score: 320
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 0.85
Marker Score: 4452
Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
Fold Change: 0.84
Marker Score: 191
Cell Name: blood cell (CL0000081)
Fold Change: 0.84
Marker Score: 9776
Cell Name: epidermal cell (CL0000362)
Fold Change: 0.84
Marker Score: 236
Cell Name: leukocyte (CL0000738)
Fold Change: 0.84
Marker Score: 481
Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.84
Marker Score: 183.5
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.83
Marker Score: 13049
Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.83
Marker Score: 167

Hover over a box to see details here...

**Key characteristics:** - GUSB is a transmembrane protein with a molecular weight of approximately 120 kDa. - It is a glycoprotein that is highly conserved across species. - It is a key enzyme in the degradation of glycoproteins and glycocans. **Pathways and functions:** - GUSB is involved in a variety of cellular processes, including cell migration, inflammation, and tissue remodeling. - It is important for the degradation of glycoproteins and glycocans, which are present in the extracellular matrix. - It is also involved in the regulation of inflammation and cell migration. **Clinical significance:** - Mutations in the GUSB gene have been linked to a number of human diseases, including mucopolysaccharidoses and scleroderma. - These diseases are characterized by the accumulation of glycosaminoglycans in the body, which can lead to tissue damage and dysfunction. - GUSB inhibitors are being investigated as potential treatments for these diseases. **Other important facts:** - GUSB is a highly regulated gene. Its expression is controlled by a variety of factors, including growth factors, cytokines, and hormones. - It is also involved in the regulation of inflammation. - It is a well-studied protein with a number of important roles in health and disease.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Beta-glucuronidase

Genular Protein ID: 438869858

Symbol: BGLR_HUMAN

Name: Beta-glucuronidase

UniProtKB Accession Codes:

P08236 B4E1F6 E9PCV0 Q549U0 Q96CL9

Database IDs:

Citations:

PubMed ID: 3468507

Title: Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.

PubMed ID: 3468507

DOI: 10.1073/pnas.84.3.685

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

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: 1916806

Title: Analysis of the 5' flanking region of the human beta-glucuronidase gene.

PubMed ID: 1916806

DOI: 10.1016/0888-7543(91)90192-h

PubMed ID: 1311180

Title: Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase.

PubMed ID: 1311180

DOI: 10.1515/bchm3.1992.373.1.57

PubMed ID: 3924735

Title: Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase.

PubMed ID: 3924735

DOI: 10.1016/0378-1119(85)90300-2

PubMed ID: 11568288

Title: A novel inhibitor of beta-glucuronidase: L-aspartic acid.

PubMed ID: 11568288

DOI: 10.1203/00006450-200110000-00007

PubMed ID: 3355537

Title: Rat liver beta-glucuronidase. cDNA cloning, sequence comparisons and expression of a chimeric protein in COS cells.

PubMed ID: 3355537

DOI: 10.1042/bj2500547

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: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

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: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8599764

Title: Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs.

PubMed ID: 8599764

DOI: 10.1038/nsb0496-375

PubMed ID: 19224584

Title: Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

PubMed ID: 19224584

DOI: 10.1002/humu.20828

PubMed ID: 8111412

Title: Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.

PubMed ID: 8111412

DOI: 10.1002/humu.1380020604

PubMed ID: 8111413

Title: Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

PubMed ID: 8111413

DOI: 10.1002/humu.1380020605

PubMed ID: 1702266

Title: Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.

PubMed ID: 1702266

PubMed ID: 7680524

Title: Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.

PubMed ID: 7680524

PubMed ID: 8089138

Title: Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

PubMed ID: 8089138

DOI: 10.1016/s0021-9258(17)31569-7

PubMed ID: 7573038

Title: A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

PubMed ID: 7573038

PubMed ID: 7633414

Title: Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

PubMed ID: 7633414

DOI: 10.1093/hmg/4.4.651

PubMed ID: 8644704

Title: Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

PubMed ID: 8644704

PubMed ID: 8707294

Title: beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.

PubMed ID: 8707294

DOI: 10.1007/s004390050207

PubMed ID: 9099834

Title: Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

PubMed ID: 9099834

DOI: 10.1007/s004390050389

PubMed ID: 9490302

Title: Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

PubMed ID: 9490302

DOI: 10.1007/s004390050656

PubMed ID: 12859417

Title: Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

PubMed ID: 12859417

DOI: 10.1034/j.1399-0004.2003.00119.x

PubMed ID: 12522561

Title: Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

PubMed ID: 12522561

DOI: 10.1007/s00439-002-0849-5

Sequence Information:

Length: 651
Mass: 74732
Checksum: 6BA7B1D935C9ABBD
Sequence:

MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD FSDNRRRGFE 
EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW YEREVILPER WTQDLRTRVV 
LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE ADISNLVQVG PLPSRLRITI AINNTLTPTT 
LPPGTIQYLT DTSKYPKGYF VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD 
SGLVNYQISV KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL 
YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK HEDADIRGKG 
FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG IVVIDECPGV GLALPQFFNN 
VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN EPASHLESAG YYLKMVIAHT KSLDPSRPVT 
FVSNSNYAAD KGAPYVDVIC LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE 
YGAETIAGFH QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR 
VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF T

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. For the full schema, download it here.

Details for: GUSB

Associated with

Cells (max top 100)

Other Information

Cloning, sequencing, and expression of cDNA for human beta-glucuronidase. PubMed ID: 3468507

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 7. PubMed ID: 12853948

Human chromosome 7: DNA sequence and biology. PubMed ID: 12690205

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Analysis of the 5' flanking region of the human beta-glucuronidase gene. PubMed ID: 1916806

Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase. PubMed ID: 1311180

Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase. PubMed ID: 3924735

A novel inhibitor of beta-glucuronidase: L-aspartic acid. PubMed ID: 11568288

Rat liver beta-glucuronidase. cDNA cloning, sequence comparisons and expression of a chimeric protein in COS cells. PubMed ID: 3355537

Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. PubMed ID: 12754519

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs. PubMed ID: 8599764

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). PubMed ID: 19224584

Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. PubMed ID: 8111412

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. PubMed ID: 8111413

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. PubMed ID: 1702266

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. PubMed ID: 7680524

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. PubMed ID: 8089138

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. PubMed ID: 7573038

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. PubMed ID: 7633414

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. PubMed ID: 8644704

beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients. PubMed ID: 8707294

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. PubMed ID: 9099834

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. PubMed ID: 9490302

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. PubMed ID: 12859417

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. PubMed ID: 12522561