Sequence in raw or FASTA format:
GALC galactosylceramidase [Homo sapiens (human)]
|Entrez Gene ID||2581|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Krabbe disease, 245200 (3)
|REACT_22258||Metabolism of lipids and lipoproteins|
|Homo sapiens (human)||GALC||NP_000144.2|
|Pan troglodytes (chimpanzee)||GALC||XP_001136291.1|
|Macaca mulatta (Rhesus monkey)||GALC||NP_001037727.1|
|Canis lupus familiaris (dog)||GALC||NP_001003238.1|
|Bos taurus (cattle)||GALC||NP_001192949.1|
|Mus musculus (house mouse)||Galc||NP_032105.2|
|Rattus norvegicus (Norway rat)||Galc||NP_001005888.1|
|Gallus gallus (chicken)||GALC||XP_421304.3|
|Danio rerio (zebrafish)||galcb||NP_998276.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||galc||NP_001072270.1|
|GO:0005975||carbohydrate metabolic process||IEA|
|GO:0006665||sphingolipid metabolic process||TAS|
|GO:0006683||galactosylceramide catabolic process||ISS|
|GO:0006687||glycosphingolipid metabolic process||TAS|
|GO:0044281||small molecule metabolic process||TAS|
|GO:0070062||extracellular vesicular exosome||IDA|
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.
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