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2774 GNAL

2774

GNAL

G protein subunit alpha L

protein-coding

Homo sapiens

基因描述

Type Description
Definition G protein subunit alpha L

研究结论

Date Results Publications
2020-01-04 12:14:00 cases extend and support prior limited literature that suggested that cervical dystonia from GNAL mutations may significantly improve with GPi deep brain stimulation 30536916
2017-12-30 12:15:00 GNAL mutation may represent one of the rare causative genetic factors of isolated laryngeal dystonia. 27093447
2017-01-28 11:07:00 GNAL mutations are not a common cause of dystonia in the Brazilian population 26810727
2016-11-05 10:43:00 We report a novel GNAL mutation in Italian family with adult-onset, dominantly-inherited dystonia 26725140
2016-09-10 11:03:00 Mutations in the GNAL gene may not be a common cause of isolated dystonia in the Chinese population. 26365774

名称对应

Type IDs
Synonymous DYT25
Gene
UniProtKB-ID: GNAL_HUMAN, A8K1Y9_HUMAN
UniprotKB: P38405, A8K1Y9
UniParc: UPI0001915443, UPI000017DF81, UPI0000001246
EMBL: AK316141, BC050021, U55180, U55182, AF493893, L10665, U55184, AP001269, U55183, U55181, AP001120, AK313902, AK290054, AP005137, CH471113
Ensembl: ENSG00000141404
KO: hsa:2774
Nucleutide sequences
EMBL-CDS: BAH14512.1, AAC37535.1, EAX01573.1, AAH50021.1, AAM12607.1, AAD00085.1, EAX01574.1, BAF82743.1, BAG36625.1
Gene_ORFName: hCG_1780858
Ensembl_TRS: ENST00000334049, ENST00000269162, ENST00000602628, ENST00000535121, ENST00000423027
Protein sequencees
Ensembl_PRO: ENSP00000334051, ENSP00000269162, ENSP00000473600, ENSP00000439023, ENSP00000408489
RefSeq: NP_001248372.1, NP_892023.1, NP_001356316.1, NP_001135811.1, NP_001248373.1, XP_006722387.1
Others
UniRef100: UniRef100_P38405
UniRef90: UniRef90_P38405
UniRef50: UniRef50_P38405
UniGene: Hs.136295, Hs.741448
CCDS: CCDS11852.1, CCDS11851.1, CCDS58614.1

全选

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