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2581 GALC

2581

GALC

galactosylceramidase

protein-coding

Homo sapiens

基因描述

Type Description
Definition galactosylceramidase

研究结论

Date Results Publications
2021-02-13 13:23:00 beta-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism. 32998995
2020-11-21 13:19:00 Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. 33097716
2020-05-23 10:57:00 This study generated information on the recessive allele frequency dynamics of GALC gene across 15 global populations. 32304783
2020-04-11 12:49:00 Self-association of beta-galactocerebrosidase (human GALC)decreases as the concentration of sodium chloride increases from 50 to 500 mM. This indicates that ionic interactions are involved in the association. These results indicate that GALC has the highest tendency for oligomerization at physiological ionic strength and pH (lysosomal lumen). 31869371
2019-08-10 10:53:00 The present study describes two GALC mutations shared by two Chinese siblings with juvenile-onset of Krabbe disease 31185936

名称对应

Type IDs
Gene
UniProtKB-ID: GALC_HUMAN, A0A0A0MQV0_HUMAN
UniprotKB: P54803, A0A0A0MQV0
UniParc: UPI00019B21FD, UPI00001FD982, UPI00004DD150, UPI0001F5506D
EMBL: AL157955, AL136501, L23116, L38558, L38549, L38551, L38550, BC036518, D25284, L38547, HM005711, L38553, AK302519, AK302956, L38556, AK296530, L38544, L38559, L38555, L38557, L38545, AK302683, L38546, HM005712, D86181, D25283, L38548, L38552
Ensembl: ENSG00000054983
KO: hsa:2581
Nucleutide sequences
EMBL-CDS: BAA04972.1, BAA24902.1, AAA80975.1, BAG59160.1, AAA16645.1, BAA04971.1, BAG64110.1, BAG63793.1, AAH36518.1, BAH13778.1, AEE61308.1, AEE61309.1
Ensembl_TRS: ENST00000261304, ENST00000544807, ENST00000393569, ENST00000393568
Protein sequencees
Ensembl_PRO: ENSP00000377198, ENSP00000437513, ENSP00000261304, ENSP00000377199
RefSeq: XP_011534920.1, NP_001188331.1, NP_001188330.1, NP_000144.2
Others
UniRef100: UniRef100_P54803
UniRef90: UniRef90_P54803
UniRef50: UniRef50_P54803
UniGene: Hs.513439
CCDS: CCDS55936.1, CCDS55937.1, CCDS9878.2

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