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112755 STX1B

112755

STX1B

syntaxin 1B

protein-coding

Homo sapiens

基因描述

Type Description
Definition syntaxin 1B

研究结论

Date Results Publications
2019-12-14 10:38:00 These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies. More often, loss-of-function mutations were found in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. 30737342
2019-04-27 11:48:00 Strong deregulation of SNAP25 and STX1B has been found at both mRNA and protein levels suggesting impaired synaptic function through SNAP25 reduction as a possible cause of calcium elevation and glutamate excitotoxicity in amyotrophic lateral sclerosis. 28855684
2019-02-09 13:09:00 that a sleep-related hypermotor epilepsy phenotype can be associated with syntaxin-1B gene mutation 30378543
2018-01-06 13:02:00 genetic variations in STX1B, DNMT3A and CYP1A1 have roles in influencing warfarin maintenance dose 27740732
2017-12-02 11:01:00 Transcranial magnetic stimulation measures of motor cortex excitability show normal excitability in adult STX1B mutation carriers with a history of seizures. 29101845

名称对应

Type IDs
Synonymous GEFSP9, STX1B1, STX1B2
Gene
UniProtKB-ID: STX1B_HUMAN
UniprotKB: P61266
UniParc: UPI0000661A03, UPI0000000C13
EMBL: AC135050, AC135048, D37933, AY995211, AY028792, BC062298
Ensembl: ENSG00000099365
KO: hsa:112755
Nucleutide sequences
EMBL-CDS: AAK27267.1, AAY45889.1, BAA07152.1, AAH62298.1
Ensembl_TRS: ENST00000215095, ENST00000565419
Protein sequencees
Ensembl_PRO: ENSP00000455899, ENSP00000215095
RefSeq: XP_016878382.1, NP_443106.1
Others
UniRef100: UniRef100_P61266
UniRef90: UniRef90_P61266
UniRef50: UniRef50_P61266
UniGene: Hs.542230
CCDS: CCDS10699.1

全选

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研究热度

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