Recombinant Human Galactocerebrosidase | MyBioSource MBS960920 product information

product summary

company name :

MyBioSource

product type :

protein

product name :

Recombinant Human Galactocerebrosidase

catalog :

MBS960920

quantity :

0.05 mg (Yeast)

price :

255 USD

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS960920

products type :

Recombinant Protein

products full name :

Recombinant Human Galactocerebrosidase

products short name :

Galactocerebrosidase

products name syn :

Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase

other names :

galactocerebrosidase isoform a; Galactocerebrosidase; galactocerebrosidase; galactosylceramidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase

products gene name :

GALC

other gene names :

GALC; GALC; GALCERase

uniprot entry name :

GALC_HUMAN

host :

E Coli or Yeast or Baculovirus or Mammalian Cell

sequence positions :

43-685, Mature full length protein

sequence length :

685

sequence :

YVLDDSDGLGREFDGIGAVSGGGATSRLLVNYPEPYRSQ
ILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGK
GFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNE
RSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASM
LLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDF
STLNSDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYE
QLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPG
WYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSK
CIRPFLPYFNVSQQFATFVLKGSFSEIPELQVWYTKLGK
TSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTT
GRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQ
TGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTI
SIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGIL
IRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAK
KWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAI
GTHSFEFAQFDNFLVEATR

purity :

Greater than 90% as determined by SDS-PAGE.

form :

Liquid containing glycerol; lyophilization may be available upon request.

storage stability :

Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

other info2 :

Species: Homo sapiens (Human)

products categories :

Cardiovascular

products description :

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.

products references :

Structure and organization of the human galactocerebrosidase (GALC) gene." Luzi P., Rafi M.A., Wenger D.A. Genomics 26:407-409(1995)

ncbi gi num :

83281450

ncbi acc num :

NP_000144.2

ncbi gb acc num :

NM_000153.3

uniprot acc num :

P54803

ncbi mol weight :

74.84kD

ncbi pathways :

Glycosphingolipid Metabolism Pathway (1270099); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolic Pathways (132956); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Sphingolipid Metabolism Pathway (82994); Sphingolipid Metabolism Pathway (1270097); 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: Lipid Metabolism - sphingolipid; EC 3.2.1.46; Hydrolase. Chromosomal Location of Human Ortholog: 14q31. Cellular Component: lysosomal lumen; lysosome. Molecular Function: galactosylceramidase activity. Biological Process: carbohydrate metabolic process; galactosylceramide catabolic process; glycosphingolipid metabolic process; sphingolipid metabolic process. Disease: Krabbe Disease

size1 :

0.05 mg (Yeast)

price1 :

255 USD

size2 :

0.05 mg (E-Coli)

price2 :

305

size3 :

0.2 mg (E-Coli)

price3 :

580

size4 :

0.2 mg (Yeast)

price4 :

665

size5 :

0.05 mg (Baculovirus)

price5 :

950

more info or order :

MyBioSource product webpage