A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.
Structure and organization of the human galactocerebrosidase (GALC) gene.
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.
Galactocerebrosidase from human urine: purification and partial characterization.
Molecular defects in Krabbe disease.
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease.
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.
Molecular heterogeneity of Krabbe disease.
Molecular basis of late-life globoid cell leukodystrophy.
Krabbe disease: genetic aspects and progress toward therapy.
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry.
The DNA sequence and analysis of human chromosome 14.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells.
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
Endolysosomes Are the Principal Intracellular Sites of Acid Hydrolase Activity.
The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure.
Advances in the Diagnosis and Treatment of Krabbe Disease.
Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Combined Automated Annotation using Multiple IEA Methods
Glycosphingolipid catabolism
UniProtKB P54803 (GALC_HUMAN) record
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The curated catalytic record separately supports hydrolysis of galactosylsphingosine (psychosine) to sphingosine and D-galactose, assigned RHEA:43908 with experimental evidence linked to PMID:8399327.
"Reaction=beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = sphing-4-enine + D-galactose;"
GALC original-context and source-evidence archive