Type | Description |
---|---|
Definition | syntaxin 1B |
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 |
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
|
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Refseq |
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