Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | GALC | contributors: mct - updated : 04-11-2014 |
HGNC name | galactosylceramidase (Krabbe disease) |
HGNC id | 4115 |
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Corresponding disease |
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Location | 14q31.3 Physical location : 88.399.359 - 88.459.907 | ||
Synonym name | galactocerebrosidase (galactosyl-ceramide beta-galactosidase) | ||
Synonym symbol(s) | GLB | ||
EC.number | 3.2.1.46 |
DNA |
TYPE | pseudogene |
STRUCTURE | 155.84 kb 17 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Promoter |
text structure | promoter GC rich |
MAPPING | cloned | Y | linked | Y | status | confirmed |
Map | cen - D14S43 - D14S53 - [D14S55 - D14S48 ] - SERPINA1 - D14S45 - qter |
Authors | Oehlmann (93) |
Text | [GALC ] |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
tissue |
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cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
|
HOMOLOGY |
Homologene |
FAMILY | glycosyl hydrolase 59 family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | extracellular |
intracellular | |
intracellular,cytoplasm,organelle,lumen | |
intracellular,cytoplasm,organelle,lysosome | |
text | axon |
basic FUNCTION | |
| |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | targeted to the lysosome by M6P receptor mediated pathway |
ASSOCIATED DISORDERS |
corresponding disease(s) | GALCD |
related resource | Krabbe Disease at GeneDis |
Other morbid association(s) |
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Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
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