galactosylceramidase

Summary
Gene Symbol
  • GALC
Aliases
  • Krabbe disease
Organism
Homo sapiens (human)
External Links
NCBI Gene
2581
HGNC
4115
KEGG Gene ID
hsa:2581
PubChem
2581
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Leukodystrophy
  • Lipid degradation
  • Lysosome
  • Reference proteome
  • Signal
  • Sphingolipid metabolism
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A0A0MQV0
  • Galactosylceramidase
P54803
  • Galactocerebroside beta-galactosidase
  • Galactosylceramidase
  • Galactosylceramide beta-galactosidase
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000054983

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01202
Name
galactosylceramidase [EC:3.2.1.46]
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 82 in total
DO ID Disease Name Source
DOID:10003 sensorineural hearing loss
DOID:10375 strabismic amblyopia
DOID:10376 amblyopia
DOID:10573 osteomalacia
DOID:10579 leukodystrophy
DOID:10581 metachromatic leukodystrophy
DOID:10587 Krabbe disease
DOID:10609 rickets
DOID:1070 primary open angle glaucoma
DOID:10908 hydrocephalus
The Human Phenotype Ontology
Displaying entries 41 - 50 of 116 in total
HPO ID HPO Term
HP:0001955 Unexplained fevers
HP:0001973 Autoimmune thrombocytopenia
HP:0002013 Vomiting
HP:0002020 Gastroesophageal reflux
HP:0002061 Lower limb spasticity
HP:0002062 Abnormal pyramidal tract morphology
HP:0002068 Neuromuscular dysphagia
HP:0002098 Respiratory distress
HP:0002123 Generalized myoclonic seizure
HP:0002136 Broad-based gait
Displaying all 4 entries
Disease ID Disease Name
ORPHA:206443
  • late-infantile/juvenile Krabbe disease
ORPHA:206448
  • adult Krabbe disease
ORPHA:206436
  • infantile Krabbe disease
OMIM:245200
  • Krabbe disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002432
Gene Name
galactosylceramidase

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024