Property Summary

NCBI Gene PubMed Count 51
Grant Count 111
R01 Count 79
Funding $17,150,534.01
PubMed Score 347.97
PubTator Score 222.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.484 0.013
malignant mesothelioma -6.700 0.000
ependymoma 1.800 0.010
oligodendroglioma 1.200 0.009
Barrett's esophagus 1.500 0.025
esophageal adenocarcinoma 2.000 0.018
atypical teratoid / rhabdoid tumor 2.000 0.000
glioblastoma 1.700 0.000
medulloblastoma 1.200 0.004
medulloblastoma, large-cell -1.900 0.000
lung cancer -2.000 0.000
active ulcerative colitis 1.344 0.027
pediatric high grade glioma 1.100 0.001
Alzheimer's disease -1.100 0.049
Pick disease -1.300 0.000
progressive supranuclear palsy -1.400 0.009
ovarian cancer -3.200 0.000
dermatomyositis 1.100 0.003

Gene

 OMIM Term (1)

Gene RIF (23)

PMID Text
27442402 Case Report: compound GALC heterozygosity in a boy with infantile Krabbe disease with severe clinical course.
26915362 Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia
26617822 promoter hypermethylation contributed to down-regulation of GALC Gene, implicating epigenetic inactivation of GALC may play a role in tumorigenesis of cancer.
26178533 GALC was downregulated by promoter hypermethylation and contributed to the pathogenesis of EBV-associated nasopharyngeal carcinoma
25101718 Genetic variants near IREB2 and GALC likely contribute to genetic susceptibility to PAE associated with COPD.
24297913 Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease.
23649392 Itis an exoglycosidase that catalyzes the hydrolysis of terminal beta-linked galactose residues and its deficiencies or mutation cause llysosomal diseases. (review)
23462331 study identified 4 novel mutations of the GALC gene in 2 unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, one nonsense mutation, c.599C>A (p.S200X),one deletion mutation, c.1911 1_1911 5delGTAAG and one missense mutation, c.2041G>A
23276707 GALC mutation is associated with Krabbe disease.
23044012 Higher galactocerebrosidase activity is predictive of later symptom onset times but does not predict survival after symptom onset when controlling for the logarithm of age at onset.
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AA Sequence

MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGAVSGGGATSRL      1 - 70
LVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYALDENYFRGYEWWLMKEAKKR     71 - 140
NPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIVGAKRYHDLDIDYIGIWNERSYNANYIKILR    141 - 210
KMLNYQGLQRVKIIASDNLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLN    211 - 280
SDMGAGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQF    281 - 350
TQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI    351 - 420
PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLPPKSQPFPSTY    421 - 490
KDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNL    491 - 560
TIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWY    561 - 630
TLTLTIKGHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR                   631 - 685
//

Text Mined References (50)

PMID Year Title
27442402 2015 Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
26915362 2016 Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
26617822 2015 DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancers.
26178533 2015 GALC gene is downregulated by promoter hypermethylation in Epstein-Barr virus-associated nasopharyngeal carcinoma.
25101718 2015 IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease.
24297913 2013 Structural snapshots illustrate the catalytic cycle of ?-galactocerebrosidase, the defective enzyme in Krabbe disease.
23649392 2013 [Structural basis for ?-galactosidase associated with lysosomal disease].
23648065 2013 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
23462331 2013 Four novel GALC gene mutations in two Chinese patients with Krabbe disease.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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