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FLASH GENE
Symbol GALC contributors: mct - updated : 04-11-2014
HGNC name galactosylceramidase (Krabbe disease)
HGNC id 4115
Corresponding disease
GALCD galactosylceramide beta-galactosidase deficiency
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
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
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3878 74.7 659 - -
16 - 3828 74.3 662 - -
17 - 3897 77.03 685 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebrain    Homo sapiens
 brain     Homo sapiens
 spinal cord     Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentralwhite matter  
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 26 AA N terminal signal peptide
  • six potential aspargine-linked glycosylation sites
  • 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
  • hydrolysis of certain galactolipids including galactosylceramide, psychosine, monogalactosyldiglyceride
  • is involved in the maintenance of a functional hematopoietic stem/progenitor cell (HSPC) niche by contributing to the control of the intracellular content of key sphingolipids
  • role of GALC in maintaining a functional subventricular zone (SVZ) neurogenic niche during the neonatal, early post-natal and adult life by contributing to the control of proliferation and self-renewal of neural stem cells (NSCs) and to the survival and migration of their neuronal and oligodendroglial progeny
  • 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    affects stem/progenitor cell survival, proliferation and self-renewal in the SVZ niche in a cell-autonomous manner
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Twi-5J display gliosis and globoid cell accumulation in the forebrain, and psychosine accumulation without extensive perturbations in CNS myelination
  • proliferation/self-renewal of neural stem cells (NSCs) and survival of their neuronal and oligodendroglial progeny are impaired in Galc-deficient mice