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GALC galactosylceramidase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000153 Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001201401 Homo sapiens galactosylceramidase (GALC), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001201402 Homo sapiens galactosylceramidase (GALC), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Related Services

Gene Symbol GALC
Entrez Gene ID 2581
Full Name galactosylceramidase
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q31

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].
Disorder

MIM: 606890

Krabbe disease, 245200 (3)

mRNA Protein Product Sequence Price Select
NM_000153, 319655715 NP_000144, 83281450 galactocerebrosidase isoform a precursor ORF Sequence $700.00
NM_001201401, 319655716 NP_001188330, 319655717 galactocerebrosidase isoform c precursor ORF Sequence $700.00
NM_001201402, 319655719 NP_001188331, 319655720 galactocerebrosidase isoform d ORF Sequence $700.00
KEGG
hsa00600Sphingolipid metabolism
hsa04142Lysosome
Reactome
REACT_120870Phospholipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_19323Sphingolipid metabolism
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)GALCNP_000144.2
Pan troglodytes (chimpanzee)GALCXP_001136291.1
Macaca mulatta (Rhesus monkey)GALCNP_001037727.1
Canis lupus familiaris (dog)GALCNP_001003238.1
Bos taurus (cattle)GALCNP_001192949.1
Mus musculus (house mouse)GalcNP_032105.2
Rattus norvegicus (Norway rat)GalcNP_001005888.1
Gallus gallus (chicken)GALCXP_421304.3
Danio rerio (zebrafish)galcbNP_998276.1
GeneCards GALC
UniProt J3KN25, E7EPA4, P54803
MIM 606890
Ensembl ENSG00000054983
HGNC 4115
HPRD 06057

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
galactocerebrosidase
Names
galactocerebrosidase
GALCERase
galactosylceraminidase
galactocerebroside beta-galactosidase
galactosylceramide beta-galactosidase
NP_000144.2
NP_001188330.1
NP_001188331.1

Interactant



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