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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GALCBA-20-REGO | 20 (40 μL) | 200 μL |
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| GALCBA-20-REGR | 20 (40 μL) | 200 μL |
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| GALCBA-20-ORGR | 20 (40 μL) | 200 μL |
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| GALCBA-20-GOGR | 20 (40 μL) | 200 μL |
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| GALCBA-20-GRRE | 20 (40 μL) | 200 μL |
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| GALCBA-20-GROR | 20 (40 μL) | 200 μL |
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| GALCBA-20-GRGO | 20 (40 μL) | 200 μL |
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| GALCBA-20-AQOR | 20 (40 μL) | 200 μL |
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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]
Gene Symbol : GALC
Gene Name : Galactosylceramidase
Chromosome : CHR 14: 879,936,64-879,330,13
Locus : 14q31.3
Alt. Genes : FEM1B
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