| Type | Description |
|---|---|
| Definition | spartin |
| Date | Results | Publications |
|---|---|---|
| 2020-05-30 12:46:00 | The novel mutation in leads to a profound bioenergetic imbalance. | 31314595 |
| 2020-02-15 13:21:00 | hypermethylation status of SPG20 gene promoter is significantly associated with intra-hepatic metastasis and contribute to HCC metastasis | 31109594 |
| 2018-09-22 10:39:00 | Methylation-induced Spastic paraplegia 20 silencing facilitates gastric cancer cell proliferation by activating the EGFR/MAPK signaling pathway. | 29673586 |
| 2017-11-18 12:25:00 | we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys. | 28679690 |
| 2016-09-24 10:51:00 | Study identified mutation in SPG20 as the disease causing mutation for Troyer Syndrome in Turkish siblings. | 26003402 |
| Type | IDs |
|---|---|
| Synonymous | SPG20, TAHCCP1 |
| Gene |
UniProtKB-ID:
SPART_HUMAN,
A0A024RDV9_HUMAN
UniprotKB:
Q8N0X7,
A0A024RDV9
UniParc:
UPI000006F5EE
EMBL:
AY123331,
AY123333,
AY123337,
AY038934,
AB011182,
AL139377,
AY123335,
CH471075,
AY123336,
AY123334,
AY038359,
BC047083,
AY123332,
KU178563,
AY123329
Ensembl:
ENSG00000133104
KO:
hsa:23111
|
| Nucleutide sequences |
EMBL-CDS:
AAM76671.1,
AAK72374.1,
AAH47083.1,
AAM76672.1,
AAK71883.1,
BAA25536.1,
EAX08558.1,
EAX08560.1,
ALQ34021.1,
EAX08562.1,
EAX08559.1
Gene_ORFName:
hCG_32832
Ensembl_TRS:
ENST00000451493,
ENST00000355182,
ENST00000650221,
ENST00000494062,
ENST00000438666
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000406061,
ENSP00000473599,
ENSP00000347314,
ENSP00000414147,
ENSP00000497209
RefSeq:
XP_024305102.1,
NP_055902.1,
NP_001135766.1,
NP_001135768.1,
XP_005266374.1,
NP_001135767.1,
XP_005266370.1,
XP_005266371.1,
XP_011533314.1,
XP_005266372.1
|
| Others |
UniRef100:
UniRef100_Q8N0X7
UniRef90:
UniRef90_Q8N0X7
UniRef50:
UniRef50_Q8N0X7
UniGene:
Hs.440414
CCDS:
CCDS9356.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Toronto |
7 |
| 2 |
Howard Hughes Medical Institute |
5 |
| 3 |
University of California |
4 |
| 4 |
Lunenfeld-Tanenbaum Research Institute |
3 |
| 5 |
University of Copenhagen |
3 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Joanna C Bakowska |
6 |
| 2 |
Craig Blackstone |
4 |
| 3 |
Sumio Sugano |
3 |
| 4 |
Yutaka Suzuki |
3 |
| 5 |
M Bento Soares |
3 |