Human Galactocerebrosidase, GALC ELISA Kit | MyBioSource MBS9321712 product information

product summary

company name :

MyBioSource

product type :

ELISA/assay

product name :

Human Galactocerebrosidase, GALC ELISA Kit

catalog :

MBS9321712

quantity :

48-Strip-Wells

price :

435 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS9321712

products type :

ELISA Kit

products full name :

Human Galactocerebrosidase, GALC ELISA Kit

products short name :

galactosylceramidase

products name syn :

Human Galactocerebrosidase (GALC) ELISA kit; GALCERase; OTTHUMP00000027906; galactocerebrosidase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase; galactosylceraminidase; galactosylceramidase

other names :

galactocerebrosidase isoform a; Galactocerebrosidase; galactocerebrosidase; GALCERase; galactosylceraminidase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase; galactosylceramidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase

products gene name :

GALC

other gene names :

GALC; GALC; GALCERase

uniprot entry name :

GALC_HUMAN

reactivity :

Human

specificity :

No significant cross-reactivity or interference between this analyte and analogues is observed.

storage stability :

Store all reagents at 2-8 degree C

other info1 :

Samples: Serum, Plasma and Tissue Homogenate. Assay Type: Sandwich. Detection Range: 3.12 ng/ml - 100 ng/ml. Sensitivity: 1.0 ng/ml.

other info2 :

Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].

products description :

Background: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of GALC (hereafter termed this analyte) in undiluted original Human serum, plasma and tissue homogenate samples.

ncbi gi num :

83281450

ncbi acc num :

NP_000144.2

ncbi gb acc num :

NM_000153.3

uniprot acc num :

P54803

ncbi mol weight :

77,033 Da

ncbi pathways :

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

ncbi summary :

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

uniprot summary :

GALC: Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. Defects in GALC are the cause of leukodystrophy globoid cell (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified. Belongs to the glycosyl hydrolase 59 family. 4 isoforms of the human protein are produced by alternative splicing. Protein type: EC 3.2.1.46; Lipid Metabolism - sphingolipid; Hydrolase. Chromosomal Location of Human Ortholog: 14q31. Cellular Component: lysosomal lumen; lysosome. Molecular Function: galactosylceramidase activity. Biological Process: sphingolipid metabolic process; carbohydrate metabolic process; glycosphingolipid metabolic process; galactosylceramide catabolic process. Disease: Krabbe Disease

size1 :

48-Strip-Wells

price1 :

435 USD

size2 :

96-Strip-Wells

price2 :

600

more info or order :

MyBioSource product webpage