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Glucosylceramidase (Gba) Recombinant Protein | Gba recombinant protein
Recombinant Mouse Glucosylceramidase (Gba)
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NCBI and Uniprot Product Information
Uniprot Description
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 adult 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; Glycan Metabolism - other glycan degradation; Lipid Metabolism - sphingolipid; EC 3.2.1.45
Cellular Component: lysosomal lumen; membrane; lysosome; lysosomal membrane
Molecular Function: hydrolase activity; hydrolase activity, acting on glycosyl bonds; receptor binding; glucosylceramidase activity
Biological Process: glucosylceramide catabolic process; negative regulation of MAP kinase activity; sphingolipid metabolic process; skin morphogenesis; metabolic process; 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; carbohydrate metabolic process; negative regulation of interleukin-6 production; sphingosine biosynthetic process; ceramide biosynthetic process; lipid metabolic process; response to pH
Research Articles on Gba
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Product Notes
The Gba gba (Catalog #AAA955268) is a Recombinant Protein produced from E Coli or Yeast or Baculovirus or Mammalian Cell and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 20-515aa; Full Length of Mature Protein. The amino acid sequence is listed below: AQPCIPKSFG YSSVVCVCNA SYCDSLDPVT LPALGTFSRY ESTRRGRRME LSVGAIQANR TGTGLLLTLQ PEKKFQKVKG FGGAMTDATA LNILALSPPT QKLLLRSYFS TNGIEYNIIR VPMASCDFSI RVYTYADTPN DFQLSNFSLP EEDTKLKIPL IHQALKMSSR PISLFASPWT SPTWLKTNGR VNGKGSLKGQ PGDIFHQTWA NYFVKFLDAY AKYGLRFWAV TAENEPTAGL FTGYPFQCLG FTPEHQRDFI SRDLGPALAN SSHDVKLLML DDQRLLLPRW AEVVLSDPEA AKYVHGIAVH WYMDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVTGWTDW NLALNPEGGP NWVRNFVDSP IIVDIPKDAF YKQPMFYHLG HFSKFIPEGS QRVALVASES TDLETVALLR PDGSAVVVVL NRSSEDVPLT ISDPDLGFLE TVSPGYSIHT YLWRRQ. It is sometimes possible for the material contained within the vial of "Glucosylceramidase (Gba), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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