GUSB - glucuronidase beta Gene
Also Known as BG; MPS7
Species: Homo sapiens
About GUSB
This gene has 14 transcripts (splice variants), 234 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 37.4), placenta (RPKM 30.1) and 25 other tissues.
Summary
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]
GUSB Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000181.4 | NP_000172.2 | beta-glucuronidase isoform 1 precursor |
| NM_001284290.2 | NP_001271219.1 | beta-glucuronidase isoform 2 precursor |
| NM_001293104.2 | NP_001280033.1 | beta-glucuronidase isoform 3 |
| NM_001293105.2 | NP_001280034.1 | beta-glucuronidase isoform 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein domain specific binding |
IPI
IPI: Inferred from physical interaction
|
20028034 | GOA |
| enables signaling receptor binding |
IPI
IPI: Inferred from physical interaction
|
20028034 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
25645918 | GOA |
GUSB Protein Structure
Glyco_hydro_2_N: Glycosyl hydrolases family 2, sugar binding domain (35 - 224)
Glyco_hydro_2: Glycosyl hydrolases family 2 (226 - 327)
Glyco_hydro_2_C: Glycosyl hydrolases family 2, TIM barrel domain (329 - 630)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 651 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-glucuronidase |
|
GUSB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83108 | beta Glucuronidase Antibody (YA2853) | WB, IHC-P, ICC/IF, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucopolysaccharidosis, Type Vii |
|
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| Mucopolysaccharidosis, Type Vi |
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| Mucopolysaccharidoses |
|
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| Mucopolysaccharidosis Iv |
|
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| Lysosomal Storage Disease |
|
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| Hydrops Fetalis, Nonimmune |
|
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| Mucopolysaccharidosis-Plus Syndrome |
|
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| Choledocholithiasis |
|
|
| Fabry Disease |
|
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| Mucolipidosis Iii Alpha/Beta |
|
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| Physiological Polycythemia |
|
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| Cholelithiasis |
|
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| Bronchopneumonia |
|
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| Gingivitis |
|
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| Mucolipidosis Ii Alpha/Beta |
|
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| Scheie Syndrome |
|
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| Bacterial Meningitis |
|
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| Pelvic Inflammatory Disease |
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| Cholecystitis |
|
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| Polyposis Syndrome, Hereditary Mixed, 2 |
|
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| Gastroenteritis |
|
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| Mucopolysaccharidosis, Type Iiib |
|
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| Colon Adenocarcinoma |
|
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| Neonatal Jaundice |
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| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
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| Mucopolysaccharidosis Iii |
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| Mucopolysaccharidosis, Type Iva |
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| Diarrhea |
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| Hurler Syndrome |
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| Neutropenia |
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| Mucopolysaccharidosis, Type Ivb |
|
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| Mucopolysaccharidosis, Type Iiia |
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| Mannosidosis, Alpha B, Lysosomal |
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| Mucopolysaccharidosis, Type Iiid |
|
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| Gaucher'S Disease |
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| Dermatitis, Atopic, 5 |
|
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| Cataract 38 |
|
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| Mucopolysaccharidosis, Type Ii |
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| Severe Congenital Neutropenia |
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| Plantar Fascial Fibromatosis |
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| Osteochondrodysplasia |
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| Haverhill Fever |
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| Colorectal Cancer |
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| Cystic Fibrosis |
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| Asthma |
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| Microphthalmia, Isolated 1 |
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| Brain Cancer |
|
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| Systemic Lupus Erythematosus |
|
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| Bacteremia 2 |
|
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| Neuronal Ceroid Lipofuscinosis |
|
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| Type 2 Diabetes Mellitus |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GUSB | VGNC | VGNC:80580 |
| Canis familiaris | GUSB | VGNC | VGNC:54034 |
| Rattus norvegicus | GUSB | RGD | RGD:2772 |
| Mus musculus | GUSB | MGD | MGI:95872 |
| Others | GUSB | NCBI |