β-galactocerebrosidase / GalCer-β-galactosidase(English)
- a lysosomal enzyme that hydrolyzes GalCer, a major lipid of myelin, kidney, and epithelial cells of the small intestine and colon. A deficiency of this enzyme causes an autosomal recessive disorder, called globoid cell leukodystrophy (aka Krabbe disease). The enzyme also degrades galactosyl-alkyl-acyl-glycerol (monogalactosyldiglyceride), a precursor of the seminolipid which is the most abundant glycolipid in spermatozoa of mammals. The gene, located in chromosomal region 14q31,45 is about 60 kb in length and consists of 17 exons. Also denoted as Galc
- OLIG1, GalSph, Gb3, CTH, FD, ATRA, CNS, CNPase, GFAP, MAP2, MBP, NG2, MOG, NSC, OL, Olig-2, OPC
- Enzymes, Genomics, Cardiology, Olfactory system, Stem cell
- https://doi.org…51967-2/00044-1
- https://doi.org…olb.2022.813637
- https://doi.org….1002/jcp.26008