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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:98168553-98225718 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 49.83 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1882 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95636
 protein coding gene Chr12:98168543-98226565 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020003
 protein coding gene Chr12:99568125-99626049 (-)
A/J MGP_AJ_G0019958
 protein coding gene Chr12:95814970-95903633 (-)
AKR/J MGP_AKRJ_G0019934
 protein coding gene Chr12:98430221-98492508 (-)
BALB/cJ MGP_BALBcJ_G0019944
 protein coding gene Chr12:96171454-96230822 (-)
C3H/HeJ MGP_C3HHeJ_G0019746
 protein coding gene Chr12:98968121-99023452 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020393
 protein coding gene Chr12:102581957-102650189 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018007
 protein coding gene Chr12:92826812-92881070 (-)
CAST/EiJ MGP_CASTEiJ_G0019292
 protein coding gene Chr12:94021765-94081094 (-)
CBA/J MGP_CBAJ_G0019718
 protein coding gene Chr12:106404002-106472176 (-)
DBA/2J MGP_DBA2J_G0019829
 protein coding gene Chr12:95259063-95315957 (-)
FVB/NJ MGP_FVBNJ_G0019818
 protein coding gene Chr12:93982204-94038734 (-)
LP/J MGP_LPJ_G0019905
 protein coding gene Chr12:99392408-99451639 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019860
 protein coding gene Chr12:110124255-110182703 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020422
 protein coding gene Chr12:97983239-98049406 (-)
PWK/PhJ MGP_PWKPhJ_G0019056
 protein coding gene Chr12:89872963-89929302 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018852
 protein coding gene Chr12:92158045-92224316 (-)
WSB/EiJ MGP_WSBEiJ_G0019346
 protein coding gene Chr12:98815934-98879021 (-)



Homology
more
  • Human Ortholog
    GALC, galactosylceramidase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GALC, galactosylceramidase
  • Links
    NCBI Gene ID: 2581
    neXtProt AC: NX_P54803
    UniProt: P54803

  • Chr Location
    14q31.3; chr14:87837820-87993667 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Galc mouse models; 1 with human GALC associations

Human Disease Mouse Models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    76 phenotypes from 10 alleles in 14 genetic backgrounds
    33 phenotypes from multigenic genotypes
    122 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    15
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    810
  • Tissues
    102
  • cDNA Data
    53
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021003 Ensembl Gene Model | MGI Sequence Detail 57166 C57BL/6J ±  kb
    transcript ENSMUST00000021390 Ensembl | MGI Sequence Detail 3832 Not Applicable  
    polypeptide ENSMUSP00000021390 Ensembl | MGI Sequence Detail 684 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 53
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-15304, MGD-MRK-9951, MGD-MRK-9962, MGI:1916901, MGI:1925845, MGI:2145017, MGI:2145024
    References
    more
    • Summaries
      All 171
      Developmental Gene Expression 7
      Diseases 6
      Gene Ontology 7
      Phenotypes 122
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory