• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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

*Business Day

Related Services

Gene Symbol GALC
Entrez Gene ID 2581
Full Name galactosylceramidase
Synonyms
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
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_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
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
Caenorhabditis elegansCELE_C29E4.10NP_498726.3
Xenopus (Silurana) tropicalis (western clawed frog)galcNP_001072270.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processIEA
GO:0006665sphingolipid metabolic processTAS
GO:0006683galactosylceramide catabolic processISS
GO:0006687glycosphingolipid metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005739mitochondrionIEA
GO:0005764lysosomeTAS
GO:0043202lysosomal lumenTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004336galactosylceramidase activityISS
GeneCards GALC
UniProt E7EPA4, P54803
Vega OTTHUMG00000028646
MIM 606890
Ensembl ENSG00000054983
HGNC 4115
HPRD 06057

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

What is the normal function of the GALC gene?

The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain fats called galactolipids, which are found primarily in the brain and kidneys.

Within cells, galactosylceramidase is found in enzyme-filled sacs called lysosomes where it hydrolyzes specific galactolipids, including galactosylceramide and psychosine. Galactosylceramide is an important component of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Psychosine forms during the production of myelin, and then it breaks down with help of galactosylceramidase. Under normal conditions, tissues contain very little psychosine.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.