Human Glucosylceramidase (GBA) ELISA kit; GBA1; GCB; GLUC; D-glucosyl-N-acylsphingosine glucohydrolase; beta-glucocerebrosidase; glucocerebrosidase; lysosomal glucocerebrosidase; glucosidase; beta; acid (includes glucosylceramidase)

For Research Use Only. Not for use in diagnostic procedures.

This assay has high sensitivity and excellent specificity for detection of human GBA. No significant cross-reactivity or interference between human GBA and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.

Small volumes of GBA elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS922515 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the glucosidase, beta; acid (includes glucosylceramidase) (GBA) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing GBA. The ELISA analytical biochemical technique of the MBS922515 kit is based on GBA antibody-GBA antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect GBA antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, GBA. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

Principle of the Assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for GBA has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any GBA present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for GBA is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of GBA bound in the initial step. The color development is stopped and the intensity of the color is measured.

59,716 Da

glucosidase, beta, acid

glucosylceramidase; beta-GC; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; glucosylceramidase-like protein; D-glucosyl-N-acylsphingosine glucohydrolase

Glucosylceramidase

GC; GLUC; Beta-GC??[Similar Products]

GLCM_HUMAN

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GBA: Defects in GBA are the cause of Gaucher disease (GD); also known as glucocerebrosidase deficiency. GD is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. Defects in GBA are the cause of Gaucher disease type 1 (GD1); also known as ***** non-neuronopathic Gaucher disease. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. Defects in GBA are the cause of Gaucher disease type 2 (GD2); also known as acute neuronopathic Gaucher disease. GD2 is the most severe form and is universally progressive and fatal. It manifests soon after birth, with death generally occurring before patients reach two years of age. Defects in GBA are the cause of Gaucher disease type 3 (GD3); also known as subacute neuronopathic Gaucher disease. GD3 has central nervous manifestations. Defects in GBA are the cause of Gaucher disease type 3C (GD3C); also known as pseudo-Gaucher disease or Gaucher-like disease. Defects in GBA are the cause of Gaucher disease perinatal lethal (GDPL). It is a distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Defects in GBA contribute to susceptibility to Parkinson disease (PARK). A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. Belongs to the glycosyl hydrolase 30 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Hydrolase; EC 3.2.1.45; Lipid Metabolism - sphingolipid; Glycan Metabolism - other glycan degradation

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: lysosomal lumen; lysosomal membrane

Molecular Function: protein binding; receptor binding; glucosylceramidase activity

Biological Process: glucosylceramide catabolic process; negative regulation of MAP kinase activity; sphingolipid metabolic process; skin morphogenesis; response to glucocorticoid stimulus; response to testosterone stimulus; positive regulation of protein amino acid dephosphorylation; regulation of water loss via skin; response to estrogen stimulus; negative regulation of inflammatory response; carbohydrate metabolic process; sphingosine biosynthetic process; negative regulation of interleukin-6 production; ceramide biosynthetic process; glycosphingolipid metabolic process; response to pH

Disease: Gaucher Disease, Type Ii; Dementia, Lewy Body; Parkinson Disease, Late-onset; Gaucher Disease, Perinatal Lethal; Gaucher Disease, Type Iiic; Gaucher Disease, Type Iii; Gaucher Disease, Type I

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