| Type | Description |
|---|---|
| Definition | senataxin |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:49:00 | Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia. | 31743419 |
| 2021-01-23 13:04:00 | Some pathogenic SETX variants are partially conserved during evolution. | 33333218 |
| 2020-08-01 13:51:00 | A cellular assay for SETX function confirmed that like the Leu389Ser mutation, the Glu385Lys variant leads to a decrease in R loops, likely from a gain of function. The molecular characterization of R-loop levels in patient-derived cells provides insight into ALS4 pathology. | 31957062 |
| 2019-07-27 10:48:00 | Mutations in senataxin (SETX) gene have been described as a rare underlying cause of autosomal dominant form of juvenile-onset familial amyotrophic lateral sclerosis. | 30052327 |
| 2019-07-13 12:19:00 | Senataxin (SETX)-deficiency results in increased RNA-DNA hybrids (R-loops) and DNA double-strand breaks (DSBs), and deficiency of DNA-activated protein kinase-catalytic subunit (DNA-PKcs), which impairs DSB repair. SETX overexpression in SMA neurons reduces R-loops and DNA damage, and rescues neurodegeneration. | 30010942 |
| Type | IDs |
|---|---|
| Synonymous | ALS4, AOA2, SCAR1, Sen1, bA479K20.2 |
| Gene |
UniProtKB-ID:
SETX_HUMAN
UniprotKB:
Q7Z333
UniParc:
UPI0000210D28,
UPI00004814BE,
UPI0001AE6E4F
EMBL:
BC032600,
BX537849,
CR749249,
AL353701,
BC078166,
BX538166,
BC032622,
BC106017,
AK022902,
AL159997,
AB014525,
AK001456,
AY362728,
BC137350
Ensembl:
ENSG00000107290
KO:
hsa:23064
|
| Nucleutide sequences |
EMBL-CDS:
AAH32600.2,
BAA31600.2,
AAI37351.1,
CAD98045.1,
CAH18105.1,
AAR13367.1,
BAB14299.1,
AAH32622.2,
BAA91701.1,
AAH78166.1,
CAD97857.1,
AAI06018.1
Ensembl_TRS:
ENST00000224140
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000224140
RefSeq:
XP_011516710.1,
XP_011516706.1,
XP_005272229.1,
XP_011516708.1,
XP_011516707.1,
NP_001338456.1,
XP_011516709.1,
XP_016869985.1,
XP_005272230.1,
NP_055861.3,
NP_001338457.1
|
| Others |
UniRef100:
UniRef100_Q7Z333
UniRef90:
UniRef90_Q7Z333
UniRef50:
UniRef50_Q7Z333
UniGene:
Hs.460317
CCDS:
CCDS6947.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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