Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. [1]

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 nervous system and kidneys.

2023年8月23日 · Krabbe disease is an autosomal recessive neurodegenerative disorder. The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC).

2024年12月25日 · GALC (Galactosylceramidase) is a Protein Coding gene. Diseases associated with GALC include Krabbe Disease and Spastic Ataxia. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosylceramidase activity.

2020年10月23日 · Krabbe disease (KD) is caused by a deficiency of galactosylceramidase (GALC), which induces demyelination and neurodegeneration due to accumulation of cytotoxic psychosine. Hematopoietic stem...

GALC encodes the lysosomal enzyme galactosylceramidase, which plays a pivotal role in the glycosphingolipid metabolism pathway. It is still unclear whether GALC is the gene driving the association in the chromosome 14 locus and, if so, by which mechanism.

2024年11月14日 · Title: A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. Jia W, Luo Y, Zhang T, Yang Y, Zhang XJia W, et al. Neurol Sci, 2023 Jul. PMID 36920572; GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which leads to progressive demyelination in both the cen …

Galactosylceramidase is an enzyme that plays a crucial role in the breakdown of certain lipids in the central nervous system. You might find these chapters and articles relevant to this topic. Rose-Mary Boustany, ... Sariah El-Haddad.