GALC (galactosylceramidase)

2007-02-01 Affiliation

Identity

HGNC

GALC

LOCATION

14q31.3

LOCUSID

2581

ALIAS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000054983	ENST00000261304	P54803
ENSG00000054983	ENST00000261304	A0A0A0MQV0
ENSG00000054983	ENST00000393568	P54803
ENSG00000054983	ENST00000393569	P54803
ENSG00000054983	ENST00000544807	P54803
ENSG00000054983	ENST00000554372	G3V4M2
ENSG00000054983	ENST00000555000	G3V255
ENSG00000054983	ENST00000555179	H0YJG8
ENSG00000054983	ENST00000556879	H0YJV6
ENSG00000054983	ENST00000557316	G3V5E8
ENSG00000054983	ENST00000622264	A0A087WX10

Expression (GTEx)

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

Pathway	Source	External ID
Sphingolipid metabolism	KEGG	ko00600
Sphingolipid metabolism	KEGG	hsa00600
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
27238910	2016	Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.	41
20410102	2010	Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.	31
20886637	2010	Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.	31
16607461	2006	Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.	20
22073273	2011	GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
17458901	2007	Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.	14
17579360	2007	A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.	13
24297913	2013	Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.	13
20800603	2010	Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.	12

Citation

Dessen P

GALC (galactosylceramidase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46350/galc