Galc - galactosylceramidase Gene
Also Known as twi; Gacy; twitcher; 2310068B06Rik; A930008M05Rik
Species: Mus musculus
Summary
This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]
Galc Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_008079.4 | NP_032105.2 | galactocerebrosidase precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables galactosylceramidase activity |
IDA
IDA: Inferred from direct assay
|
8769874 | MGI |
| enables galactosylceramidase activity |
IMP
IMP: Inferred from mutant phenotype
|
11371512 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within galactosylceramide catabolic process |
IDA
IDA: Inferred from direct assay
|
11371512 | MGI |
| acts upstream of or within galactosylceramide catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
11371512 | MGI |
| involved in galactosylceramide catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
8769874 | MGI |
| acts upstream of or within myelination |
IMP
IMP: Inferred from mutant phenotype
|
11371512 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
galactocerebrosidase |
|
|