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Galc Gene Detail
Summary
  • Symbol
    Galc
  • Name
    galactosylceramidase
  • Synonyms
    2310068B06Rik, A930008M05Rik, Gacy, galactocerebrosidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:95636
    NCBI Gene: 14420
  • Gene Overview
    MyGene.info: GALC
Location & Maps
more
  • Sequence Map
    Chr12:98202304-98259459 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      57156 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GALC, galactosylceramidase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GALC, galactosylceramidase
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 2581
    neXtProt AC: NX_P54803

  • Chr Location
    14q31; chr14:87933014-87993665 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 124
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: GALC
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Galc mouse models; 1 with human GALC associations

Human Disease Mouse Models
       Krabbe Disease   OMIM: 245200 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    71 phenotypes from 7 alleles in 12 genetic backgrounds
    33 phenotypes from multigenic genotypes
    89 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Spontaneous
    4
  • Targeted
    5
  • Genomic Mutations
    1 involving Galc
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021003 Ensembl Gene Model | MGI Sequence Detail 57156 C57BL/6J ±  kb
transcript ENSMUST00000021390 Ensembl | MGI Sequence Detail 3822 Not Applicable  
polypeptide ENSMUSP00000021390 Ensembl | MGI Sequence Detail 684 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    416 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 53
    cDNA 52
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-15304, MGD-MRK-9951, MGD-MRK-9962, MGI:1916901, MGI:1925845, MGI:2145017, MGI:2145024
References
more
  • Summaries
    All 127
    Developmental Gene Expression 5
    Diseases 13
    Gene Ontology 6
    Phenotypes 89
  • 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:226342 Lin DS, et al., Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy. Gene. 2015 Oct 15;571(1):81-90

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
04/19/2016
MGI 6.03
The Jackson Laboratory