Recombinant Human Glucosylceramidase (GBA) | MyBioSource MBS957076 product information

product summary

company name :

MyBioSource

product type :

protein

product name :

Recombinant Human Glucosylceramidase (GBA)

catalog :

MBS957076

quantity :

0.5 mg (E-Coli)

price :

1285 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS957076

products type :

Recombinant Protein

products full name :

Recombinant Human Glucosylceramidase (GBA)

products short name :

Glucosylceramidase (GBA)

products name syn :

Glucosylceramidase; EC=3.2.1.45; Acid beta-glucosidase; Alglucerase; Beta-glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; Imiglucerase

other names :

glucosylceramidase isoform 1; Glucosylceramidase; glucosylceramidase; beta-GC; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; glucosylceramidase-like protein; D-glucosyl-N-acylsphingosine glucohydrolase; glucosidase, beta, acid; Acid beta-glucosidase; Alglucerase; Beta-glucocerebrosidase; Beta-GC; D-glucosyl-N-acylsphingosine glucohydrolase; Imiglucerase

products gene name :

GBA

products gene name syn :

GBA; GC; GLUC

other gene names :

GBA; GBA; GCB; GBA1; GLUC; GC; GLUC; Beta-GC

uniprot entry name :

GLCM_HUMAN

host :

E Coli or Yeast or Baculovirus or Mammalian Cell

sequence positions :

40-536

sequence length :

497

sequence :

A RPCIPKSFGY SSVVCVCNAT YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ

purity :

>90%

form :

Liquid containing glycerol; lyophilization may be available upon request.

storage stability :

Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

other info1 :

Species: Homo sapiens (Human)

ncbi gi num :

54607043

ncbi acc num :

NP_000148.2

ncbi gb acc num :

NM_000157.3

uniprot acc num :

P04062

ncbi mol weight :

54,471 Da

ncbi pathways :

Glycosphingolipid Metabolism Pathway (530751); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Other Glycan Degradation Pathway (82976); Other Glycan Degradation Pathway (346); Sphingolipid Metabolism Pathway (82994); Sphingolipid Metabolism Pathway (119543); Sphingolipid Metabolism Pathway (369)

ncbi summary :

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]

uniprot summary :

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: Glycan Metabolism - other glycan degradation; Lipid Metabolism - sphingolipid; Hydrolase; EC 3.2.1.45. 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; regulation of water loss via skin; negative regulation of MAP kinase activity; sphingolipid metabolic process; skin morphogenesis; response to estrogen stimulus; negative regulation of inflammatory response; response to glucocorticoid stimulus; carbohydrate metabolic process; sphingosine biosynthetic process; negative regulation of interleukin-6 production; ceramide biosynthetic process; glycosphingolipid metabolic process; response to testosterone stimulus; positive regulation of protein amino acid dephosphorylation; response to pH. Disease: Gaucher Disease, Type Ii; Dementia, Lewy Body; Parkinson Disease, Late-onset; Gaucher Disease, Type Iiic; Gaucher Disease, Perinatal Lethal; Gaucher Disease, Type Iii; Gaucher Disease, Type I

size1 :

0.5 mg (E-Coli)

price1 :

1285 USD

size2 :

0.05 mg (Baculovirus)

price2 :

1285

size3 :

0.5 mg (Yeast)

price3 :

1500

size4 :

0.05 mg (Mammalian-Cell)

price4 :

1500

size5 :

1 mg (E-Coli)

price5 :

2105

more info or order :

MyBioSource product webpage