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Galc galactosylceramidase [ Mus musculus (house mouse) ]

Gene ID: 14420, updated on 29-Oct-2024

Summary

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Official Symbol
Galcprovided by MGI
Official Full Name
galactosylceramidaseprovided by MGI
Primary source
MGI:MGI:95636
See related
Ensembl:ENSMUSG00000021003 AllianceGenome:MGI:95636
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
twi; Gacy; twitcher; 2310068B06Rik; A930008M05Rik
Summary
This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]
Expression
Ubiquitous expression in kidney adult (RPKM 11.0), testis adult (RPKM 4.6) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Galc in Genome Data Viewer
Location:
12 E; 12 49.83 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (98168543..98226565, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (98202287..98259459, complement)

Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 35326 Neighboring gene STARR-seq mESC enhancer starr_32988 Neighboring gene STARR-seq mESC enhancer starr_32989 Neighboring gene STARR-seq mESC enhancer starr_32990 Neighboring gene STARR-seq mESC enhancer starr_32991 Neighboring gene STARR-seq mESC enhancer starr_32992 Neighboring gene STARR-seq mESC enhancer starr_32993 Neighboring gene predicted gene, 47415 Neighboring gene STARR-seq mESC enhancer starr_32994 Neighboring gene heterogeneous nuclear ribonucleoprotein A/B-like Neighboring gene STARR-positive B cell enhancer ABC_E8497 Neighboring gene STARR-positive B cell enhancer ABC_E8498 Neighboring gene STARR-positive B cell enhancer ABC_E5347 Neighboring gene STARR-positive B cell enhancer ABC_E11519 Neighboring gene G-protein coupled receptor 65 Neighboring gene STARR-positive B cell enhancer mm9_chr12:99698044-99698344 Neighboring gene potassium channel, subfamily K, member 10 Neighboring gene predicted gene, 40893

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Deficiency of galactosyl-ceramidase in adult oligodendrocytes worsens disease severity during chronic experimental allergic encephalomyelitis. Saldivia N, et al. Mol Ther, 2024 Sep 4. PMID 38937968,
  2. Distribution and characterization of GFP(+) donor hematogenous cells in Twitcher mice after bone marrow transplantation. Wu YP, et al. Am J Pathol, 2000 Jun. PMID 10854208, Free PMC Article
  3. Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Luzi P, et al. Mol Genet Metab, 2001 Jul. PMID 11461188
  4. Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements. Shen JS, et al. Gene Ther, 2001 Jul. PMID 11526455
  5. Delayed clinical and pathological signs in twitcher (globoid cell leukodystrophy) mice on a C57BL/6 x CAST/Ei background. Biswas S, et al. Neurobiol Dis, 2002 Aug. PMID 12270695

See all (155) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deficiency of galactosyl-ceramidase in adult oligodendrocytes worsens disease severity during chronic experimental allergic encephalomyelitis.
    Title: Deficiency of galactosyl-ceramidase in adult oligodendrocytes worsens disease severity during chronic experimental allergic encephalomyelitis.
  2. Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.
    Title: Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.
  3. Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
    Title: Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration.
  4. Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
    Title: Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
  5. Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
    Title: Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
  6. Data show that transgenic galactocerebrosidase (GALC) activity was mainly localized at the Purkinje cells layer in the cerebellum of the AAV-treated twitcher mice.
    Title: Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy.
  7. The results of this study indicated that the greater neurochemical pathology observed in the optic nerve than in the sciatic nerve of beta-gal -/- mice is likely due to the greater glycolipid storage in optic nerve.
    Title: Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.
  8. This study demonistrated that galactosylceramidase Deficiency also casue neuromuscular dysfunction.
    Title: Mechanism of neuromuscular dysfunction in Krabbe disease.
  9. results show that GALCtwi-5J, a spontaneous mutation in murine GALC precisely matches the E130K missense mutation in patients with infantile Krabbe disease
    Title: Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
  10. Insights into the mechanisms underlying galactosylceramidase regulation of early post-natal neurogenic niches improve our understanding of the multi-component pathology of globoid cell leukodystrophy .
    Title: The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables galactosylceramidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables galactosylceramidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables galactosylceramidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables galactosylceramidase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in galactosylceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within galactosylceramide catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within galactosylceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in galactosylceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in galactosylceramide catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within myelination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 
located_in mitochondrion HDA PubMed 

General protein information

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Preferred Names
galactocerebrosidase
Names
GALCERase
galactocerebroside beta-galactosidase
galactosylceramide beta-galactosidase
NP_032105.2
XP_006515535.1
XP_017170449.1
XP_030102421.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_008079.4 → NP_032105.2  galactocerebrosidase precursor

    See identical proteins and their annotated locations for NP_032105.2

    Status: REVIEWED

    Source sequence(s)
    AC122317, BC065140, BC086671, D38557
    Consensus CDS
    CCDS36517.1
    UniProtKB/Swiss-Prot
    O35151, P54818, Q3U3H7
    Related
    ENSMUSP00000021390.8, ENSMUST00000021390.9
    Conserved Domains (2) summary
    pfam02057
    Location:17 → 684
    Glyco_hydro_59; Glycosyl hydrolase family 59
    cl23815
    Location:32 → 313
    Glyco_hydro_30; O-Glycosyl hydrolase family 30

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000078.7 Reference GRCm39 C57BL/6J

    Range
    98168543..98226565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030246561.2 → XP_030102421.1  galactocerebrosidase isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VM63, Q3TTJ1
    Conserved Domains (2) summary
    pfam02057
    Location:1 → 233
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:241 → 357
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

  2. XM_017314960.3 → XP_017170449.1  galactocerebrosidase isoform X1

    UniProtKB/TrEMBL
    A0A1Y7VM63, Q3TTJ1
    Related
    ENSMUSP00000152540.2, ENSMUST00000221063.2
    Conserved Domains (2) summary
    pfam02057
    Location:1 → 233
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:241 → 357
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain

  3. XM_006515472.5 → XP_006515535.1  galactocerebrosidase isoform X2

    Conserved Domains (2) summary
    pfam02057
    Location:55 → 349
    Glyco_hydro_59; Glycosyl hydrolase family 59
    pfam17387
    Location:357 → 418
    Glyco_hydro_59M; Glycosyl hydrolase family 59 central domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54818.2 GenPept UniProtKB/Swiss-Prot:P54818

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