GALC - galactosylceramidase Gene
Species: Homo sapiens
About GALC
This gene has 16 transcripts (splice variants), 229 orthologues and is associated with 5 phenotypes. Ubiquitous expression in small intestine (RPKM 14.9), duodenum (RPKM 14.2) and 25 other tissues.
Summary
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
GALC Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000153.4 | NP_000144.2 | galactocerebrosidase isoform a precursor |
| NM_001201401.2 | NP_001188330.1 | galactocerebrosidase isoform c precursor |
| NM_001201402.2 | NP_001188331.1 | galactocerebrosidase isoform d |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables galactosylceramidase activity |
IDA
IDA: Inferred from direct assay
|
8281145 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in galactosylceramide catabolic process |
IDA
IDA: Inferred from direct assay
|
8399327 | GOA |
GALC Protein Structure
Glyco_hydro_59: Glycosyl hydrolase family 59 (17 - 685)
- 0
- 200
- 400
- 600
- 685 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
galactocerebrosidase |
|
GALC Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86885 | GALC Antibody (YA6578) | WB, IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Krabbe Disease |
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| Infantile Krabbe Disease |
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| Late-Infantile/Juvenile Krabbe Disease |
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| Adult Krabbe Disease |
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| Spastic Ataxia |
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| Nervous System Disease |
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| Congenital Nervous System Abnormality |
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| Status Epilepticus |
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| Leukodystrophy |
|
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| Amblyopia |
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| Hypomyelinating Leukodystrophy |
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| Metachromatic Leukodystrophy |
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| Sphingolipidosis |
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| Beckwith-Wiedemann Syndrome |
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| Strabismus |
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| Lysosomal Storage Disease |
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| Combined Saposin Deficiency |
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| Demyelinating Disease |
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| Gaucher'S Disease |
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| Scheie Syndrome |
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| Gaucher Disease, Perinatal Lethal |
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| Gm1-Gangliosidosis, Type I |
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| Farber Lipogranulomatosis |
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| Sandhoff Disease |
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| Gm1 Gangliosidosis |
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| Kanzaki Disease |
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| Gangliosidosis |
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| Gm2 Gangliosidosis |
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| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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| Cerebral Degeneration |
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| Pelizaeus-Merzbacher Disease |
|
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| Gm2-Gangliosidosis, Ab Variant |
|
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| Tay-Sachs Disease |
|
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| Mucopolysaccharidosis, Type Iiib |
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| Tolosa-Hunt Syndrome |
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| Mucopolysaccharidosis-Plus Syndrome |
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| Gaucher Disease, Type I |
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| Lipid Storage Disease |
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| Canavan Disease |
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| Mucopolysaccharidosis, Type Iva |
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| Periventricular Leukomalacia |
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| Niemann-Pick Disease, Type A |
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| Mucopolysaccharidosis, Type Ivb |
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| Encephalomalacia |
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| Mucopolysaccharidosis Iii |
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| Leukodystrophy, Hypomyelinating, 5 |
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| Demyelinating Polyneuropathy |
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| Mucopolysaccharidosis, Type Ii |
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| Niemann-Pick Disease |
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| Nephrotic Syndrome, Type 14 |
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| Mucopolysaccharidosis, Type Iiia |
|
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| Neuronal Ceroid Lipofuscinosis |
|
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| Amyotrophic Lateral Sclerosis 1 |
|
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| Parkinson Disease, Late-Onset |
|
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| Hereditary Spastic Paraplegia |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GALC | VGNC | VGNC:80966 |
| Macaca mulatta | GALC | VGNC | VGNC:72867 |
| Rattus norvegicus | GALC | RGD | RGD:1359384 |
| Mus musculus | GALC | MGD | MGI:95636 |
| Canis familiaris | GALC | VGNC | VGNC:41079 |
| Bos taurus | GALC | VGNC | VGNC:29217 |
| Others | GALC | NCBI |