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Galc
Gene Detail
 Symbol
Name
ID
Galc
galactosylceramidase
MGI:95636
Synonyms 2310068B06Rik, A930008M05Rik, Gacy, galactocerebrosidase
Feature Type protein coding gene
Genetic Map
Chromosome 12
49.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr12:98202300-98259337 bp, - strand
From NCBI annotation of GRCm38

  57038 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:124  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Galc

Human
homologs
Human Homolog GALC, galactosylceramidase
NCBI Gene ID 2581
neXtProt AC  NX_P54803
Human Chr (Location)  14q31; chr14:87837820-87993665 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human GALC
Alleles
and
phenotypes
All alleles(10) : Chemically induced (ENU)(1) Spontaneous(4) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age.
 
Human Diseases Modeled Using Mouse Galc (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process carbohydrate metabolic process, galactosylceramide catabolic process, ...
Component extracellular vesicular exosome, lysosome, ...
Function galactosylceramidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (101)    Tissues (99)   
Theiler Stages: 20, 22, 24, 26, 28
Assay TypeResults
RNA in situ 94
RT-PCR 7
cDNA source data(52)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(53) cDNA(52) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000021003 (Evidence)
Entrez Gene14420 (Evidence)
UniGene5120
DFCITC1578738, TC1630567, TC1698553
DoTSDT.101198046, DT.101296694, DT.528189, DT.91332366, DT.91584981
NIA Mouse Gene IndexU034246
EC3.2.1.46
PDB4CCC, 4CCD, 4CCE, 3ZR5, 3ZR6
Consensus CDS ProjectCCDS36517.1
International Mouse Knockout Project StatusGalc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14420 NCBI Gene Model | MGI Sequence Detail 57038 C57BL/6J ±  kb
transcript NM_008079 RefSeq | MGI Sequence Detail 3723 C57BL/6 
polypeptide P54818 UniProt | EBI | MGI Sequence Detail 684 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(416 from dbSNP Build 137)    SNPs within 2kb including multiple locations(418)
Protein-related
information
ResourceIDDescription
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR001286 Glycoside hydrolase, family 59
InterPro IPR017853 Glycoside hydrolase, superfamily
Protein Ontology PR:000007811 galactocerebrosidase
Graphical View of Protein Domain Structure
References (Earliest) J:6390 Duchen LW, et al., Hereditary leucodystrophy in the mouse: the new mutant twitcher. Brain. 1980 Sep;103(3):695-710
(Latest) J:208051 Smith BR, et al., Neuronal inclusions of alpha-synuclein contribute to the pathogenesis of Krabbe disease. J Pathol. 2014 Apr;232(5):509-21
All references(125)
Other
accession IDs
MGD-MRK-15304, MGD-MRK-9951, MGD-MRK-9962, MGI:1916901, MGI:1925845, MGI:2145017, MGI:2145024

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory