Galactocerebrosidase
| Galactocerebrosidase | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 643 amino acids | |
| Isoforms | 5 | |
| Identifier | ||
| Gene name | 4115 | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 3.2.1.46 , glycosidase | |
| Response type | D-galactose is split off | |
| Substrate | D-galactosyl-N-acylsphingosine + H 2 | |
| Products | D-galactose + N-acylsphingosine | |
| Occurrence | ||
| Parent taxon | Vertebrates | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 2581 | 14420 |
| Ensemble | ENSG00000054983 | ENSMUSG00000021003 |
| UniProt | P54803 | P54818 |
| Refseq (mRNA) | NM_000153 | NM_008079 |
| Refseq (protein) | NP_000144 | NP_032105 |
| Gene locus | Chr 14: 87.84 - 87.99 Mb | Chr 12: 98.2 - 98.26 Mb |
| PubMed search | 2581 |
14420
|
Galactocerebrosidase (also: galactosylceramidase ) is the enzyme in vertebrates that splits galactose from galactocerebrosides . The breakdown of these glycolipids , which are part of myelin , takes place in the lysosomes of the cells . Mutations in GALC - gene in humans are the cause of a deficiency of this enzyme, and this hereditary for a rare metabolic disorder, the Krabbe disease .
Galactocerebrosidase is a member of the 59 family in the Henrissat classification of glycosidases.
literature
- I. Visigalli, A. Biffi: Maintenance of a functional hematopoietic stem cell niche through galactocerebrosidase and other enzymes. In: Current Opinion in Hematology . Volume 18, Number 4, July 2011, pp. 214-219, doi : 10.1097 / MOH.0b013e3283477979 . PMID 21537167 .
- D. Dolcetta, L. Perani, et al. a .: Design and optimization of lentiviral vectors for transfer of GALC expression in Twitcher brain. In: The journal of gene medicine. Volume 8, number 8, August 2006, pp. 962-971, doi : 10.1002 / jgm.924 . PMID 16732552 .
Individual evidence
- ↑ Orthologist at EggNOG
- ↑ UniProt P54803
- ^ WC Lee, D. Kang et al. a .: Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. In: The Journal of neuroscience: the official journal of the Society for Neuroscience. Volume 30, number 16, April 2010, pp. 5489-5497, doi : 10.1523 / JNEUROSCI.6383-09.2010 . PMID 20410102 .
- ↑ Bernard Henrissat: Glycosyl hydrolase families: classification and list of entries