This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.... See more...

Aliases for GALC Gene

Aliases for GALC Gene

  • Galactosylceramidase 2 3 4 5
  • Galactocerebroside Beta-Galactosidase 3 4
  • Galactosylceramide Beta-Galactosidase 3 4
  • Galactocerebrosidase 3 4
  • EC 3.2.1.46 4 52
  • GALCERase 3 4
  • Testis Tissue Sperm-Binding Protein Li 88E 3
  • Testis Tissue Sperm-Binding Protein Li 89A 3
  • Galactosylceramidase (Krabbe Disease) 2
  • Galactosylceraminidase 3
  • Krabbe Disease 2

External Ids for GALC Gene

Previous GeneCards Identifiers for GALC Gene

  • GC14M085904
  • GC14M082216
  • GC14M086389
  • GC14M087469
  • GC14M088399
  • GC14M068569

Summaries for GALC Gene

Entrez Gene Summary for GALC Gene

  • This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALC Gene

GALC (Galactosylceramidase) is a Protein Coding gene. Diseases associated with GALC include Krabbe Disease and Leukodystrophy. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosylceramidase activity.

UniProtKB/Swiss-Prot Summary for GALC Gene

  • Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.

Gene Wiki entry for GALC Gene

Additional gene information for GALC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALC Gene

Genomics for GALC Gene

GeneHancer (GH) Regulatory Elements for GALC Gene

Promoters and enhancers for GALC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J087989 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 533.6 +0.3 315 8.1 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 PHF8 GALC lnc-KCNK10-2 GPR65 RNU6-835P RF00026-336
GH14J088004 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.5 -13.9 -13933 6.2 ZBTB40 SIN3A SP1 EP300 RCOR1 POLR2A ATF2 NFYB BCL11A RELA GPR65 GALC ENSG00000258407
GH14J088022 Enhancer 1.3 Ensembl ENCODE dbSUPER 27.2 -32.0 -32004 5.9 POLR2G PHB2 TCF7 FOXA1 AFF1 TARDBP HES1 CTBP1 SKI TEAD1 LINC01146 piR-36887-009 GALC GPR65 LINC01147
GH14J088043 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 26.6 -51.5 -51477 3.3 EP300 FOXK2 TCF12 NCOR1 KDM6A TCF7 FOXA1 ZBTB25 TGIF2 SMARCC2 GALC GPR65 LINC01147 LINC01146 piR-48222-131
GH14J088001 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 32.4 -8.9 -8900 1.6 SP1 SPI1 POU2F2 IKZF1 REST CREM ZNF148 IKZF2 ETV6 EED GALC GPR65 RNU6-835P RF00026-336
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALC

Top Transcription factor binding sites by QIAGEN in the GALC gene promoter:
  • c-Myc
  • C/EBPalpha
  • C/EBPbeta
  • ER-alpha
  • FAC1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-1
  • POU3F1

Genomic Locations for GALC Gene

Genomic Locations for GALC Gene
chr14:87,837,820-87,993,665
(GRCh38/hg38)
Size:
155,846 bases
Orientation:
Minus strand
chr14:88,304,164-88,460,009
(GRCh37/hg19)
Size:
155,846 bases
Orientation:
Minus strand

Genomic View for GALC Gene

Genes around GALC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALC Gene

Proteins for GALC Gene

  • Protein details for GALC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54803-GALC_HUMAN
    Recommended name:
    Galactocerebrosidase
    Protein Accession:
    P54803
    Secondary Accessions:
    • B4DKE8
    • B4DYN1
    • B4DZJ8
    • B7Z7Z2
    • J3KN25
    • J3KPP8
    • Q8J030

    Protein attributes for GALC Gene

    Size:
    685 amino acids
    Molecular mass:
    77063 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA16645.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA80975.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH36518.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA04971.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA04972.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305}; Sequence=BAA24902.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG59160.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GALC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALC Gene

Selected DME Specific Peptides for GALC Gene

P54803:
  • GGVFIAGRVNKGGILIRSA
  • SGGGATSRLLVNY
  • ILDYLFKPNFGASLHI
  • QTTDGTEPSHMH
  • KVEIGGD
  • LDIDYIGIWNE
  • FADQTGVFEY
  • PKNGWAAIGTHSFE
  • GGSYVALTD
  • GLMTAQEPWSGHYVV
  • CDVYIETP
  • AHTTQFTQPGW
  • KLWSSED
  • MTAAAGSA
  • RILNQNY
  • IIASDNLW
  • GVFEYFTN
  • WPYVNLQLTAYY
  • TISIIGDY
  • FRGYEWWLM

Post-translational modifications for GALC Gene

  • Glycosylation at Asn143, Asn379, Asn403, Asn556, Asn559, and Asn602
  • Modification sites at PhosphoSitePlus

Domains & Families for GALC Gene

Gene Families for GALC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GALC Gene

Blocks:
  • Glycosyl hydrolase family 59 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GALC Gene

GenScript: Design optimal peptide antigens:
  • Galactosylceramide beta-galactosidase (GALC_HUMAN)
  • Galactocerebrosidase (O95953_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54803

UniProtKB/Swiss-Prot:

GALC_HUMAN :
  • Belongs to the glycosyl hydrolase 59 family.
Family:
  • Belongs to the glycosyl hydrolase 59 family.
genes like me logo Genes that share domains with GALC: view

Function for GALC Gene

Molecular function for GALC Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639; EC=3.2.1.46; Evidence={ECO:0000269 PubMed:8281145, ECO:0000269 PubMed:8399327};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.0-4.4.; Temperature dependence: Activity is lost after heating at 52 degrees Celsius for five minutes.;
GENATLAS Biochemistry:
galactocerebrosidase (galactosyl-ceramide beta-galactosidase),lysosomal

Enzyme Numbers (IUBMB) for GALC Gene

Phenotypes From GWAS Catalog for GALC Gene

Gene Ontology (GO) - Molecular Function for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004336 galactosylceramidase activity IEA,TAS --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GALC: view
genes like me logo Genes that share phenotypes with GALC: view

Human Phenotype Ontology for GALC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALC

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GALC Gene

Localization for GALC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALC Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALC gene
Compartment Confidence
lysosome 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA,TAS 21873635
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with GALC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GALC Gene

Pathways & Interactions for GALC Gene

genes like me logo Genes that share pathways with GALC: view

Gene Ontology (GO) - Biological Process for GALC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006683 galactosylceramide catabolic process ISS,IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GALC: view

No data available for SIGNOR curated interactions for GALC Gene

Drugs & Compounds for GALC Gene

(5) Drugs for GALC Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Galactose Approved, Investigational Pharma 0
Water Approved Pharma 0

(114) Additional Compounds for GALC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucosylceramide
  • 1-O-b-D-Glucopyranosyl-ceramide
  • 1-O-beta-delta-Glucopyranosyl-ceramide
  • Ganglioside GL1a
  • Gaucher cerebroside
  • GLC-beta1->1'cer
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with GALC: view

Transcripts for GALC Gene

mRNA/cDNA for GALC Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALC

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALC Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - - - -
SP6: - - -
SP7:
SP8:

Relevant External Links for GALC Gene

GeneLoc Exon Structure for
GALC

Expression for GALC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALC Gene

Protein differential expression in normal tissues from HIPED for GALC Gene

This gene is overexpressed in Neutrophil (23.7) and Fetal ovary (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALC Gene



Protein tissue co-expression partners for GALC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALC

SOURCE GeneReport for Unigene cluster for GALC Gene:

Hs.513439

mRNA Expression by UniProt/SwissProt for GALC Gene:

P54803-GALC_HUMAN
Tissue specificity: Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver.

Evidence on tissue expression from TISSUES for GALC Gene

  • Nervous system(5)
  • Skin(4.3)
  • Urine(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GALC: view

No data available for mRNA differential expression in normal tissues for GALC Gene

Orthologs for GALC Gene

This gene was present in the common ancestor of animals.

Orthologs for GALC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALC 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GALC 31 30
  • 87.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GALC 31 30
  • 85.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galc 30
  • 83.28 (n)
mouse
(Mus musculus)
Mammalia Galc 17 31 30
  • 82.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALC 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves GALC 31 30
  • 69.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALC 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galc 30
  • 67.19 (n)
zebrafish
(Danio rerio)
Actinopterygii galca 31
  • 64 (a)
OneToMany
galcb 31 30
  • 63.75 (n)
OneToMany
wufi04e07 30
worm
(Caenorhabditis elegans)
Secernentea CELE_C29E4.10 30
  • 47.11 (n)
C29E4.10 31 32
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
Species where no ortholog for GALC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALC Gene

ENSEMBL:
Gene Tree for GALC (if available)
TreeFam:
Gene Tree for GALC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALC: view image

Paralogs for GALC Gene

No data available for Paralogs for GALC Gene

Variants for GALC Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GALC Gene

GALC_HUMAN-P54803
Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALC Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
642301 Pathogenic: Galactosylceramide beta-galactosidase deficiency 87,984,523(-) C/T NONSENSE
642832 Likely Pathogenic: Galactosylceramide beta-galactosidase deficiency 87,984,416(-) T/A MISSENSE_VARIANT
647999 Likely Pathogenic: Galactosylceramide beta-galactosidase deficiency 87,984,535(-) T/C SPLICE_ACCEPTOR_VARIANT
651170 Pathogenic: Galactosylceramide beta-galactosidase deficiency 87,965,534(-) T/C MISSENSE_VARIANT
655013 Uncertain Significance: Galactosylceramide beta-galactosidase deficiency 87,986,548(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GALC Gene

Structural Variations from Database of Genomic Variants (DGV) for GALC Gene

Variant ID Type Subtype PubMed ID
dgv1953n100 CNV loss 25217958
dgv1954n100 CNV loss 25217958
dgv382n67 CNV loss 20364138
dgv3840n54 CNV loss 21841781
dgv672e212 CNV loss 25503493
esv2665905 CNV deletion 23128226
esv2760008 CNV loss 17122850
esv2761850 CNV loss 21179565
esv3307501 CNV mobile element insertion 20981092
esv3359641 CNV insertion 20981092
esv3581370 CNV loss 25503493
esv3581371 CNV loss 25503493
esv3635266 CNV loss 21293372
esv3635267 CNV gain 21293372
esv3635268 CNV loss 21293372
nsv1047065 CNV loss 25217958
nsv1138323 CNV deletion 24896259
nsv442353 CNV loss 18776908
nsv514759 CNV gain+loss 21397061
nsv515709 CNV loss 19592680
nsv565506 CNV loss 21841781
nsv565511 CNV loss 21841781
nsv9165 CNV gain 18304495
nsv976362 CNV duplication 23825009

Variation tolerance for GALC Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.83; 97.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALC Gene

Human Gene Mutation Database (HGMD)
GALC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALC

SNP Genotyping and Copy Number Assay Products

Disorders for GALC Gene

MalaCards: The human disease database

(26) MalaCards diseases for GALC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
krabbe disease
  • globoid cell leukodystrophy; gld; gcl
leukodystrophy
  • leukodystrophies
status epilepticus
  • grand mal status
amblyopia
infantile krabbe disease
  • krabbe disease, classic form
- elite association - COSMIC cancer census association via MalaCards
Search GALC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GALC_HUMAN
  • Leukodystrophy, globoid cell (GLD) [MIM:245200]: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269 PubMed:10234611, ECO:0000269 PubMed:10477434, ECO:0000269 PubMed:17579360, ECO:0000269 PubMed:20886637, ECO:0000269 PubMed:23462331, ECO:0000269 PubMed:8595408, ECO:0000269 PubMed:8786069, ECO:0000269 PubMed:8940268, ECO:0000269 PubMed:9272171}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GALC Gene

globoid cell leukodystrophy,Krabbe disease,autosomal recessive,manifested in the 3-6 month of life by marked irritability and hypersensitivity to external stimuli,fits of tonic rigidity and spastic quadriparesis leading to death at 1-3 years following a very rapidly progressive motor and mental deterioration,characterized by severe loss of myelin in the CNS and large multinucleated (globoid) cells in the white matter,also including later onset variant forms occuring in childhood or in adulthood

Additional Disease Information for GALC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GALC: view

Publications for GALC Gene

  1. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. (PMID: 17579360) Lissens W … Fiumara A (Human mutation 2007) 3 4 23 54
  2. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. (PMID: 11814461) Harzer K … Eggers J (Clinica chimica acta; international journal of clinical chemistry 2002) 3 23 41 54
  3. Krabbe disease: genetic aspects and progress toward therapy. (PMID: 10833326) Wenger DA … Costantino-Ceccarini E (Molecular genetics and metabolism 2000) 3 4 23 54
  4. Molecular basis of late-life globoid cell leukodystrophy. (PMID: 10477434) De Gasperi R … Kolodny EH (Human mutation 1999) 3 4 23 54
  5. Molecular heterogeneity of Krabbe disease. (PMID: 10234611) Fu L … Okada S (Journal of inherited metabolic disease 1999) 3 4 23 54

Products for GALC Gene

Sources for GALC Gene