| Type | Description |
|---|---|
| Definition | phosphodiesterase 6C |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:57:00 | Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia. | 32306724 |
| 2019-04-13 10:33:00 | Three novel homozygous variants were detected in CNGA3, two novel variants were found in PDE6C. All patients had nonrecordable full-field electroretinography 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses. | 30289319 |
| 2018-05-26 11:46:00 | This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C. | 28583373 |
| 2016-02-27 11:38:00 | A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. | 25605338 |
| 2015-09-05 10:48:00 | Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones. | 26085644 |
| Type | IDs |
|---|---|
| Synonymous | ACHM5, COD4, PDEA2 |
| Gene |
UniProtKB-ID:
PDE6C_HUMAN
UniprotKB:
P51160
UniParc:
UPI000013C84A
EMBL:
U20210,
AL157396,
X94354,
U20203,
U20200,
U20199,
U20211,
AL356214,
U20196,
U20202,
U20197,
CH471066,
U31973,
U20208,
U20207,
U20205,
U20212,
U20206,
U20201,
U20204,
U20209
Ensembl:
ENSG00000095464
KO:
hsa:5146
|
| Nucleutide sequences |
EMBL-CDS:
AAA92886.1,
EAW50064.1,
CAA64079.1,
AAA96392.1
Ensembl_TRS:
ENST00000371447
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000360502
RefSeq:
NP_006195.3
|
| Others |
UniRef100:
UniRef100_P51160
UniRef90:
UniRef90_P51160
UniRef50:
UniRef50_P35913
UniGene:
Hs.658121
CCDS:
CCDS7429.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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