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Aliases for GUSB Gene

Aliases for GUSB Gene

  • Glucuronidase Beta 2 3 5
  • EC 3.2.1.31 4 61
  • Beta-G1 3 4
  • Beta-D-Glucuronidase 3
  • Glucuronidase, Beta 2
  • Beta-Glucuronidase 3
  • MPS7 3
  • BG 3

External Ids for GUSB Gene

Previous GeneCards Identifiers for GUSB Gene

  • GC07M064065
  • GC07M064823
  • GC07M064837
  • GC07M064869
  • GC07M065064
  • GC07M065425
  • GC07M061613

Summaries for GUSB Gene

Entrez Gene Summary for GUSB Gene

  • This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]

GeneCards Summary for GUSB Gene

GUSB (Glucuronidase Beta) is a Protein Coding gene. Diseases associated with GUSB include Mucopolysaccharidosis Vii and Hydrops Fetalis. Among its related pathways are Innate Immune System and Glycosaminoglycan degradation. GO annotations related to this gene include receptor binding and hydrolase activity, hydrolyzing O-glycosyl compounds.

UniProtKB/Swiss-Prot for GUSB Gene

  • Plays an important role in the degradation of dermatan and keratan sulfates.

Gene Wiki entry for GUSB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUSB Gene

Genomics for GUSB Gene

Regulatory Elements for GUSB Gene

Enhancers for GUSB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G066043 1.1 Ensembl ENCODE 4.1 -62.0 -61979 1.4 FUS YY1 GLIS2 EGR1 PRPF4 PCBP1 CBX8 GLIS1 ZNF341 ZBTB33 VKORC1L1 LOC84214 LOC100420547 TYW1 ENSG00000229180 ENSG00000232546 ENSG00000244657 ENSG00000230189 CCT6P1 GUSB
GH07G066974 1 ENCODE 4.4 -993.0 -992969 0.6 FOXA2 ARNT DMAP1 FEZF1 ZNF2 YY1 ZNF766 FOS SP5 YY2 ENSG00000229180 LINC00174 GUSB LOC100996437 LOC644794 RN7SL43P TMEM248
GH07G065749 1.1 ENCODE 3.8 +231.2 231205 2.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YBX1 ZNF2 VKORC1L1 LOC100996437 LOC84214 RABGEF1 LINC00174 ENSG00000230189 ENSG00000244657 GTF2IP9 ZNF138 LOC100420547
GH07G065980 1.2 ENCODE 0.7 +0.6 618 2.9 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 RABGEF1 ENSG00000244657 LOC100420547 ENSG00000229180 ENSG00000232546 ENSG00000230189 LOC84214 GTF2IP23 CCT6P1 VKORC1L1
GH07G065983 0.8 ENCODE 0.7 -2.0 -2002 0.8 TBP PKNOX1 NFIB GATA2 ZNF366 SCRT2 FOS PCBP1 USF2 CEBPB VKORC1L1 CCT6P1 GUSB ENSG00000224365
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GUSB on UCSC Golden Path with GeneCards custom track

Promoters for GUSB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000212899 514 1601 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21

Genomic Location for GUSB Gene

Chromosome:
7
Start:
65,960,684 bp from pter
End:
65,982,314 bp from pter
Size:
21,631 bases
Orientation:
Minus strand

Genomic View for GUSB Gene

Genes around GUSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUSB Gene

Proteins for GUSB Gene

  • Protein details for GUSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08236-BGLR_HUMAN
    Recommended name:
    Beta-glucuronidase
    Protein Accession:
    P08236
    Secondary Accessions:
    • B4E1F6
    • E9PCV0
    • Q549U0
    • Q96CL9

    Protein attributes for GUSB Gene

    Size:
    651 amino acids
    Molecular mass:
    74732 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for GUSB Gene

    Alternative splice isoforms for GUSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUSB Gene

Selected DME Specific Peptides for GUSB Gene

P08236:
  • LWWPYLMHE
  • FLINGKPFYF
  • GWVWYERE
  • DFFNYAG
  • QKPIIQSEYGA
  • SKYPKGYF
  • YIDDITVTT
  • TLPPGTI
  • PAYLYSLEV
  • VVMWSVANEP
  • PKSAAFLL
  • GELIWNFADFMT
  • KDFNLLRWLGAN

Post-translational modifications for GUSB Gene

  • N-linked glycosylated with 3 to 4 oligosaccharide chains.
  • Ubiquitination at isoforms=2, 339 and isoforms=2, 3641
  • Glycosylation at posLast=173173, posLast=272272, posLast=420420, and isoforms=2, 3631
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for GUSB (beta-Glucuronidase/GUSB)

Domains & Families for GUSB Gene

Suggested Antigen Peptide Sequences for GUSB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08236

UniProtKB/Swiss-Prot:

BGLR_HUMAN :
  • Belongs to the glycosyl hydrolase 2 family.
Family:
  • Belongs to the glycosyl hydrolase 2 family.
genes like me logo Genes that share domains with GUSB: view

No data available for Gene Families for GUSB Gene

Function for GUSB Gene

Molecular function for GUSB Gene

GENATLAS Biochemistry:
glucuronidase,beta-,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the fifth step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by L-aspartic acid.
UniProtKB/Swiss-Prot Function:
Plays an important role in the degradation of dermatan and keratan sulfates.

Enzyme Numbers (IUBMB) for GUSB Gene

Gene Ontology (GO) - Molecular Function for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004566 beta-glucuronidase activity TAS --
GO:0005102 receptor binding IPI 20028034
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0019904 protein domain specific binding IPI 20028034
genes like me logo Genes that share ontologies with GUSB: view
genes like me logo Genes that share phenotypes with GUSB: view

Human Phenotype Ontology for GUSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GUSB Gene

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GUSB Gene

Localization for GUSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUSB Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUSB gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005764 lysosome IEA --
GO:0016020 membrane IDA 19946888
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with GUSB: view

Pathways & Interactions for GUSB Gene

genes like me logo Genes that share pathways with GUSB: view

Gene Ontology (GO) - Biological Process for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA,TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0030214 hyaluronan catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GUSB: view

No data available for SIGNOR curated interactions for GUSB Gene

Drugs & Compounds for GUSB Gene

(80) Drugs for GUSB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niraparib Approved, Investigational Pharma Enzyme, substrate PARP inhibitor, PARP Inhibitors 22
Isopropyl alcohol Approved Pharma 0
Water Approved Pharma 0
D-Glucuronic acid Experimental Pharma 0
SN-38 Pharma 0

(162) Additional Compounds for GUSB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetaminophen glucuronide
  • 4-(Acetylamino)phenyl beta-D-glucopyranosiduronic acid
  • 4-(Acetylamino)phenyl beta-delta-glucopyranosiduronic acid
  • 4-Acetamidophenol glucuronide
  • 4-Acetamidophenyl b-D-glucopyranosiduronic acid
  • 4-Acetamidophenyl b-delta-glucopyranosiduronic acid
16110-10-4
bilirubin diglucuronide
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylate
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylic acid
  • Bilirubin beta-diglucuronide
  • Bilirubin-bisglucuronoside
  • Bis(glucosyluronic acid)bilirubin
17459-92-6
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
SN38 glucuronide
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
genes like me logo Genes that share compounds with GUSB: view

Transcripts for GUSB Gene

Unigene Clusters for GUSB Gene

Glucuronidase, beta:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUSB Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7: - -
SP8: -
SP9: - - - -
SP10: - - - - -
SP11: -
SP12:
SP13: - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - - -

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - -
SP16:
SP17:

Relevant External Links for GUSB Gene

GeneLoc Exon Structure for
GUSB
ECgene alternative splicing isoforms for
GUSB

Expression for GUSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GUSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GUSB Gene

This gene is overexpressed in Testis (11.6), Liver (8.2), and Urine (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GUSB Gene



Protein tissue co-expression partners for GUSB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GUSB Gene:

GUSB

SOURCE GeneReport for Unigene cluster for GUSB Gene:

Hs.255230

Evidence on tissue expression from TISSUES for GUSB Gene

  • Lung(4.8)
  • Intestine(4.7)
  • Liver(4.7)
  • Bone marrow(4.5)
  • Nervous system(4.5)
  • Blood(3.3)
  • Kidney(3.3)
  • Spleen(2.7)
  • Skin(2.4)
  • Urine(2.4)
  • Heart(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUSB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • lymph node
  • lymph vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GUSB: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GUSB Gene

Orthologs for GUSB Gene

This gene was present in the common ancestor of animals.

Orthologs for GUSB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUSB 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia GUSB 34 35
  • 83.9 (n)
dog
(Canis familiaris)
Mammalia GUSB 34 35
  • 82.92 (n)
rat
(Rattus norvegicus)
Mammalia Gusb 34
  • 78.05 (n)
mouse
(Mus musculus)
Mammalia Gusb 34 16 35
  • 77.79 (n)
oppossum
(Monodelphis domestica)
Mammalia GUSB 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUSB 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUSB 34 35
  • 69.19 (n)
lizard
(Anolis carolinensis)
Reptilia GUSB 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gusb 34
  • 64.29 (n)
Str.15952 34
zebrafish
(Danio rerio)
Actinopterygii GUSB (1 of 2) 35
  • 66 (a)
OneToMany
gusb 35 34
  • 65.61 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011859 34
  • 54.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15117 36 34 35
  • 54.53 (n)
CG2135 36 35
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8B.9 34
  • 49.97 (n)
Y105E8B.9 36 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToOne
Species where no ortholog for GUSB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUSB Gene

ENSEMBL:
Gene Tree for GUSB (if available)
TreeFam:
Gene Tree for GUSB (if available)

Paralogs for GUSB Gene

No data available for Paralogs for GUSB Gene

Variants for GUSB Gene

Sequence variations from dbSNP and Humsavar for GUSB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121918172 Pathogenic, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,960,997(-) TGCAG(C/T)GTTCC nc-transcript-variant, reference, missense
rs121918173 Pathogenic, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,974,626(-) CTTTC(C/T)GTACC nc-transcript-variant, reference, missense
rs121918174 Pathogenic, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,979,477(-) TGCAG(C/T)GGTCT intron-variant, nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs121918175 Pathogenic, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,974,923(-) GGATG(C/T)GGACG intron-variant, nc-transcript-variant, reference, missense
rs121918176 Pathogenic, Mucopolysaccharidosis 7 (MPS7) [MIM:253220] 65,961,022(-) TCACT(C/T)GGCAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GUSB Gene

Variant ID Type Subtype PubMed ID
esv21527 CNV gain 19812545
esv2664145 CNV deletion 23128226
esv2761079 CNV gain+loss 21179565
esv3613492 CNV gain 21293372
esv3613493 CNV gain 21293372
nsv1028971 CNV gain 25217958
nsv981505 CNV duplication 23825009

Variation tolerance for GUSB Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUSB Gene

Human Gene Mutation Database (HGMD)
GUSB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUSB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUSB Gene

Disorders for GUSB Gene

MalaCards: The human disease database

(21) MalaCards diseases for GUSB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis vii
  • mucopolysaccharidosis, type vii
hydrops fetalis
  • familial non-immune hydrops fetalis
necrotizing ulcerative gingivitis
  • acute necrotising ulcerative gingivitis
mucopolysaccharidosis
  • mps
choledocholithiasis
- elite association - COSMIC cancer census association via MalaCards
Search GUSB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BGLR_HUMAN
  • Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: An autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. {ECO:0000269 PubMed:12522561, ECO:0000269 PubMed:12859417, ECO:0000269 PubMed:1702266, ECO:0000269 PubMed:7573038, ECO:0000269 PubMed:7633414, ECO:0000269 PubMed:7680524, ECO:0000269 PubMed:8089138, ECO:0000269 PubMed:8111412, ECO:0000269 PubMed:8111413, ECO:0000269 PubMed:8644704, ECO:0000269 PubMed:8707294, ECO:0000269 PubMed:9099834, ECO:0000269 PubMed:9490302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GUSB

Genetic Association Database (GAD)
GUSB
Human Genome Epidemiology (HuGE) Navigator
GUSB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUSB
genes like me logo Genes that share disorders with GUSB: view

No data available for Genatlas for GUSB Gene

Publications for GUSB Gene

  1. Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample. (PMID: 16272959) Gratz M. … Kroemer H.K. (Pharmacogenet. Genomics 2005) 3 22 46 64
  2. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PMID: 12522561) Storch S. … Braulke T. (Hum. Genet. 2003) 3 4 22 64
  3. Cloning, sequencing, and expression of cDNA for human beta- glucuronidase. (PMID: 3468507) Oshima A. … Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 1987) 2 3 4 64
  4. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (PMID: 19224584) Tomatsu S. … Sly W.S. (Hum. Mutat. 2009) 3 4 64
  5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4 64

Products for GUSB Gene

Sources for GUSB Gene

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