靶标:
GALC
产品别名:
GALC; galactosylceramidase; galactosylceramidase; galactocerebrosidase; GALCERase; galactocerebroside beta-galactosidase; galactosylceramide beta-galactosidase; galactosylceraminidase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A; 半乳糖神经酰胺酶; 半乳糖神经酰胺酶(GALC); 半乳糖脑苷脂酶;
背景信息:
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],