GALC Chromosome 14
Galactosylceramidase
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What This Gene Does
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 Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
14q31.3
Ensembl
ENSG00000054983
Associated Conditions (14)
Galactosylceramide beta-galactosidase deficiency
Abnormal brain morphology
See cases
Inborn genetic diseases
GALC-related disorder
Intellectual disability
Gastric cancer
19 conditions
Abnormality of the nervous system
Acute myeloid leukemia
Melanoma
Spastic ataxia
Incidental Discovery
Fabry disease
Key Variants
RS1057516270
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1060499761
Conflicting classifications of pathogenicity
Abnormal brain morphology, Galactosylceramide beta-galactosidase deficiency, Abnormal brain morphology
Health Risk
RS115869593
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1200769534
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1210612295
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1249991480
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, See cases, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1289015582
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1308816724
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1349064845
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1359281521
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1365128831
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1428571249
Conflicting classifications of pathogenicity
Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
Health Risk
All Variants (368)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1400447609 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1405488688 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1410766358 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555378534 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555378701 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555381439 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555383310 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555383517 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555383679 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384318 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1555384381 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1566972341 | Health Risk | Pathogenic | — |
| RS1566974586 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1566993302 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1567019327 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1595215209 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1884765073 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1884845930 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1885138493 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1885229622 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1885230326 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1885269233 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1885895082 | Health Risk | Pathogenic | — |
| RS1886008578 | Health Risk | Pathogenic | — |
| RS1886886241 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1886976159 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1887063180 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1887064841 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS1887278169 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS199847983 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS200532368 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS202131052 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency |
| RS2139749699 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139754606 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139754775 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139755093 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139758703 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139758786 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139769498 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139769937 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139769959 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139925574 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139925729 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139925832 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139937977 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139941220 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139941246 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139951107 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139951585 | Health Risk | Pathogenic | — |
| RS2139956292 | Health Risk | Pathogenic | Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |