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2629 GBA

2629

GBA

glucosylceramidase beta

protein-coding

Homo sapiens

基因描述

Type Description
Definition glucosylceramidase beta

研究结论

Date Results Publications
2021-04-13 10:14:00 Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease. 33753743
2021-04-03 13:30:00 Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations. 32197197
2021-03-06 13:31:00 Association of GBA Genotype With Motor and Functional Decline in Patients With Newly Diagnosed Parkinson Disease. 33443131
2021-03-06 13:25:00 Biofluid Biomarkers in Parkinson's Disease: Clarity Amid Controversy. 32220025
2021-02-27 13:46:00 Metabolic alterations in Parkinson's disease astrocytes. 32879386

名称对应

Type IDs
Synonymous GBA1, GCB, GLUC
Gene
UniProtKB-ID: GLCM_HUMAN, A0A068F658_HUMAN, B7Z6S9_HUMAN
UniprotKB: P04062, A0A068F658, B7Z6S9
UniParc: UPI0001915082, UPI0000073DCE, UPI0001C33999, UPI0001C33998, UPI0000044552, UPI000150AEE9
EMBL: M18917, J03059, D13287, AF023268, M19285, AK291911, M20282, AL713999, D13286, BC003356, AK300829, M20248, KJ690771, AK298900, M16328, AK300876, M18916, K02920
Ensembl: ENSG00000177628
KO: hsa:2629
Nucleutide sequences
EMBL-CDS: BAF84600.1, BAH12898.1, AAA35873.1, AAA35877.1, AAC63056.1, AAA35874.1, AAA35879.1, AAH03356.1, AAA35876.1, AAA35878.1, BAA02545.1, AAC51820.1, BAA02546.1, BAH13357.1, AAA35880.1, AID60277.1, BAH13365.1
Ensembl_TRS: ENST00000327247, ENST00000428024, ENST00000368373, ENST00000427500
Protein sequencees
Ensembl_PRO: ENSP00000402577, ENSP00000397986, ENSP00000357357, ENSP00000314508
RefSeq: NP_001005741.1, NP_001005742.1, NP_001165283.1, NP_001165282.1, NP_000148.2
Others
UniRef100: UniRef100_B7Z6S9, UniRef100_P04062
UniRef90: UniRef90_B7Z6S9, UniRef90_P04062
UniRef50: UniRef50_P04062, UniRef50_P17439
UniGene: Hs.282997
CCDS: CCDS1102.1, CCDS53374.1, CCDS53373.1

全选

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