| Type | Description |
|---|---|
| Definition | potassium channel tetramerization domain containing 7 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-24 10:26:00 | Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders | 30295347 |
| 2017-05-13 11:24:00 | KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy. | 27742667 |
| 2017-03-18 10:51:00 | reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review] | 27629772 |
| 2014-11-08 11:20:00 | This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia. | 25060828 |
| 2013-01-05 11:28:00 | The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME patients. | 22693283 |
| Type | IDs |
|---|---|
| Synonymous | CLN14, EPM3 |
| Gene |
UniProtKB-ID:
KCTD7_HUMAN,
A0A024RDN7_HUMAN
UniprotKB:
Q96MP8,
A0A024RDN7
UniParc:
UPI00000745E2,
UPI000006E5CB
EMBL:
CH471140,
AK056631,
CH236961,
BC042482
Ensembl:
ENSG00000243335
KO:
hsa:154881
|
| Nucleutide sequences |
EMBL-CDS:
AAH42482.1,
EAL23735.1,
EAX07919.1,
BAB71236.1,
EAX07920.1
Gene_ORFName:
hCG_41264
Ensembl_TRS:
ENST00000639828,
ENST00000443322
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000411624,
ENSP00000492240
RefSeq:
NP_694578.1,
NP_001161433.1
|
| Others |
UniRef100:
UniRef100_Q96MP8
UniRef90:
UniRef90_Q96MP8
UniRef50:
UniRef50_Q96MP8
UniGene:
Hs.546627
CCDS:
CCDS5534.1,
CCDS55117.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
Université Libre de Bruxelles |
2 |
| 2 |
University of Southern California |
2 |
| 3 |
Geron Corporation, Menlo Park, California 94025, USA. rbrandenberger@geron.com |
1 |
| 4 |
Institute for Research in Biomedicine (IRB Barcelona) |
1 |
| 5 |
Lunenfeld-Tanenbaum Research Institute (LTRI) |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Sumio Sugano |
3 |
| 2 |
Yutaka Suzuki |
3 |
| 3 |
Keiichi Nagai |
2 |
| 4 |
Katsuhiro Kanda |
2 |
| 5 |
Hisashi Kikuchi |
2 |