| Type | Description |
|---|---|
| Definition | galactosylceramidase |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:19:00 | Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. | 33097716 |
| 2015-11-28 10:17:00 | Data show that transgenic galactocerebrosidase (GALC) activity was mainly localized at the Purkinje cells layer in the cerebellum of the AAV-treated twitcher mice. | 26115766 |
| 2015-09-05 10:12:00 | The results of this study indicated that the greater neurochemical pathology observed in the optic nerve than in the sciatic nerve of beta-gal -/- mice is likely due to the greater glycolipid storage in optic nerve. | 25694553 |
| 2015-04-11 10:53:00 | This study demonistrated that galactosylceramidase Deficiency also casue neuromuscular dysfunction. | 25632136 |
| 2014-02-22 10:16:00 | results show that GALCtwi-5J, a spontaneous mutation in murine GALC precisely matches the E130K missense mutation in patients with infantile Krabbe disease | 23620143 |
| Type | IDs |
|---|---|
| Synonymous | 2310068B06Rik, A930008M05Rik, AW212969, AW413532, Gacy, twi, twitcher |
| Gene |
UniProtKB-ID:
GALC_MOUSE
UniprotKB:
P54818
UniParc:
UPI00003543F8
EMBL:
AF003877,
AF003872,
AF003885,
AF003886,
AF003882,
AF003879,
AF003874,
AF003880,
AF003876,
AK154760,
CH466549,
AF003870,
AF003884,
AF003883,
AF003878,
BC086671,
D38557,
AF003871,
AF003881,
AF003873,
AF003875
Ensembl:
ENSMUSG00000021003
KO:
mmu:14420
|
| Nucleutide sequences |
EMBL-CDS:
EDL18937.1,
BAA07560.1,
BAE32809.1,
AAH86671.1,
AAB71823.1
Ensembl_TRS:
ENSMUST00000021390
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000021390
RefSeq:
XP_017170449.1,
XP_030102421.1,
NP_032105.2,
XP_006515535.1
|
| Others |
UniRef100:
UniRef100_P54818
UniRef90:
UniRef90_P54818
UniRef50:
UniRef50_P54803
UniGene:
Mm.5120
CCDS:
CCDS36517.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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