GALC (galactosylceramidase)

2007-02-01  

Identity

HGNC
GALC
LOCATION
14q31.3
LOCUSID
2581
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2581
MIM: 606890
HGNC: 4115
Ensembl: ENSG00000054983

Variants:

dbSNP: 2581
ClinVar: 2581
TCGA: ENSG00000054983
COSMIC: GALC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000054983ENST00000261304P54803
ENSG00000054983ENST00000261304A0A0A0MQV0
ENSG00000054983ENST00000393568P54803
ENSG00000054983ENST00000393569P54803
ENSG00000054983ENST00000544807P54803
ENSG00000054983ENST00000554372G3V4M2
ENSG00000054983ENST00000555000G3V255
ENSG00000054983ENST00000555179H0YJG8
ENSG00000054983ENST00000556879H0YJV6
ENSG00000054983ENST00000557316G3V5E8
ENSG00000054983ENST00000622264A0A087WX10

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363700002023GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.9
369205722023A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.0
363700002023GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.9
369205722023A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.0
361137492022Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.3
361137492022Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.3
321862432021Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.4
331901882021Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.4
340211682021β-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer.4
321862432021Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.4
331901882021Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.4
340211682021β-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer.4
323047832020Allele frequency analysis of GALC gene causing Krabbe disease in human and its codon usage.1
329989952020β-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism.6
330977162020Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.19

Citation

Dessen P

GALC (galactosylceramidase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46350/haematological-explorer/css/lib/bootstrap.min.css