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]

galc基因位于14号染色体q31.3区段，由17个外显子组成，共685个氨基酸（转录本nm_000153.4）。 该基因编码 半乳糖基神经酰胺酶 ，其作用是水解半乳糖神经酰胺为半乳糖和神经酰胺。

Krabbe disease is caused by mutations in a gene known as GALC, which results in a lack of an enzyme called galactocerebrosidase. Your body needs this enzyme for the metabolism of galactocerebroside, a component of myelin (the protective sheath around nerves).

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.

Krabbe病(球形细胞脑白质营养不良)是一种罕见的常染色体隐性遗传病，由GALC(也称为半乳糖神经酰胺酶)缺乏导致。 GALC可使白质髓鞘形成过程中形成的半乳糖脂发生脂质体水解。

该基因编码一种溶酶体蛋白，可水解半乳糖神经酰胺、半乳糖鞘氨醇、乳糖神经酰胺和单半乳糖甘油二酯的半乳糖酯键。 该基因的突变与克拉伯病有关，也称为球形细胞脑白质营养不良。 已经表征了编码不同亚型的替代转录剪接变体。 [RefSeq 提供，2008 年 7 月] This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.

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.

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. Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.

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.

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.