Type | Description |
---|---|
Definition | gap junction protein alpha 8 |
Date | Results | Publications |
---|---|---|
2021-03-27 14:42:00 | Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. | 32384692 |
2021-02-27 13:47:00 | Lens Connexin Channels Show Differential Permeability to | 32971763 |
2020-12-05 13:00:00 | Connexin43 and connexin50 channels exhibit different permeability to the second messenger inositol triphosphate. | 32457413 |
2020-11-21 13:14:00 | GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells. | 31844091 |
2020-07-04 10:22:00 | The study identified a novel cataract phenotype caused by the p.R76H mutation in Cx50, providing evidence of further phenotypic heterogeneity associated with this mutation. | 30928190 |
Type | IDs |
---|---|
Synonymous | CAE, CAE1, CTRCT1, CX50, CZP1, MP70 |
Gene |
UniProtKB-ID:
CXA8_HUMAN,
X5D7G1_HUMAN
UniprotKB:
P48165,
X5D7G1
UniParc:
UPI0000049BA0
EMBL:
AL445591,
KJ534845,
EF672108,
U34802,
LT990261,
AF217524
Ensembl:
ENSG00000121634
KO:
hsa:2703
|
Nucleutide sequences |
EMBL-CDS:
AAF32309.1,
CAH72387.1,
AAA77062.1,
ABS11172.1,
AHW56485.1,
VZP20061.1
Ensembl_TRS:
ENST00000369235
|
Protein sequencees |
Ensembl_PRO:
ENSP00000358238
RefSeq:
XP_011507719.1,
NP_005258.2
|
Others |
UniRef100:
UniRef100_P48165
UniRef90:
UniRef90_P48165
UniRef50:
UniRef50_P48165
UniGene:
Hs.632441
CCDS:
CCDS30834.1
|
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Refseq |
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