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Positive Control: 293T cell lysate, A375 cell lysate, A549 cell lysate, SH-SY5Y cell lysate, HaCaT cell lysate, human brain tissue, human liver cancer tissue.
Tissue Specificity: Low tissue specificity.
Subcellular Location: Lysosome.
Sequence Similarities: 85% Mouse.
Predicted band size: 77 kDa.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3.2.1.46; beta-galactosidase; Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALCERase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A
基因别名: GALC
UniProt ID: (Human) B7Z7Z2
Entrez Gene ID: (Human) 2581