| Type | Description |
|---|---|
| Definition | phosphodiesterase 6A |
| Date | Results | Publications |
|---|---|---|
| 2020-02-22 12:11:00 | Mutations in PDE6A and PDE6B accounted for 1.6% and 2.4%, respectively, in a cohort of French patients with rod-cone dystrophy (RCD) | 30998820 |
| 2019-10-05 12:06:00 | Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers. | 30289068 |
| 2019-04-13 10:45:00 | Mutation in PDE6A gene is associated with autosomal recessive retinitis pigmentosa disease progression. | 30153077 |
| 2019-03-30 10:21:00 | By using targeted next-generation sequencing (NGS) method, we identified a compound heterozygous mutation in PDE6A gene that is associated with retinitis pigmentosa in a Chinese family. | 29693493 |
| 2017-05-27 11:31:00 | this is the first phenotypic description of arRP due to homozygous IVS6+1G>A mutations in PDE6A and these seem here to be associated with severe RP leading to early extinction of rod responses as well as reduced macular function. | 27820873 |
| Type | IDs |
|---|---|
| Synonymous | CGPR-A, PDEA, RP43 |
| Gene |
UniProtKB-ID:
PDE6A_HUMAN,
F1T0K3_HUMAN
UniprotKB:
P16499,
F1T0K3
UniParc:
UPI0002003FE9,
UPI000013CE9F
EMBL:
AB593141,
AC008427,
BC035909,
M26061,
CH471062,
AC008545
Ensembl:
ENSG00000132915
KO:
hsa:5145
|
| Nucleutide sequences |
EMBL-CDS:
AAB69155.1,
AAH35909.1,
EAW61757.1,
BAJ84077.1
Ensembl_TRS:
ENST00000255266,
ENST00000617647,
ENST00000613228
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000255266,
ENSP00000478060,
ENSP00000482774
RefSeq:
XP_011535952.1,
XP_011535956.1,
XP_011535953.1,
XP_011535955.1,
NP_000431.2,
XP_016865061.1,
XP_011535954.1
|
| Others |
UniRef100:
UniRef100_P16499,
UniRef100_F1T0K3
UniRef90:
UniRef90_H2QRS2,
UniRef90_P16499
UniRef50:
UniRef50_P16499
UniGene:
Hs.567314
CCDS:
CCDS4299.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Toronto |
2 |
| 2 |
National Eye Institute |
2 |
| 3 |
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts, USA. |
1 |
| 4 |
College of Physicians and Surgeons of Columbia University |
1 |
| 5 |
McGill University |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
S J Pittler |
4 |
| 2 |
T P Dryja |
2 |
| 3 |
E L Berson |
2 |
| 4 |
X Huang |
2 |
| 5 |
J A Beavo |
2 |