| Type | Description |
|---|---|
| Definition | crystallin beta A1 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-07 11:21:00 | CRYBA1 showed lower expression in cataract lenses than in control lenses. The deleted form (p.G91del) of CRYBA1 showed lower expression and was more aggregate to the cell membrane than the wild-type CRYBA1. | 31488069 |
| 2019-05-11 10:24:00 | This study investigated the mechanism of cataracts caused by a c.215 + 1G > A splice mutation in CRYBA1. The mutant beta A3/A1 crystallin causes toxicity and degeneration of differentiating lens cells. The mutant beta A3/A1 crystallin acts by inducing the unfolded protein response culminating in apoptosis. | 26851658 |
| 2019-01-19 10:09:00 | A recurrent DeltaG91CRYBA1/A3 mutation occurs independently in 6.4% of the Chinese families with autosomal dominant nuclear cataracts and most likely represents a mutational hot spot, which underscores the relations between nonprogressive nuclear cataract and CRYBA1/A3. | 29364738 |
| 2017-02-25 10:53:00 | We identified a de novo in-frame 3-bp deletion in the proband with an autosomal dominant congenital cataract, but not in her parents, in an Iranian family. This mutation has occurred de novo on a paternal gamete during spermatogenesis. The in-silico results predicted the interaction of CRYBA1 protein with the other CRY as well as proteins responsible for eye cell signaling. | 28120589 |
| 2016-06-11 10:14:00 | The findings suggest that impaired endolysosomal signaling in ocular astrocytes can cause PFV disease, by adversely affecting the vascular remodeling processes essential to ocular development, including regression of the fetal vasculature. [review] | 26022148 |
| Type | IDs |
|---|---|
| Synonymous | CRYB1, CTRCT10 |
| Gene |
UniProtKB-ID:
CRBA1_HUMAN
UniprotKB:
P05813
UniParc:
UPI00001283CF,
UPI0000D7A47C
EMBL:
M14305,
U59058,
M14302,
M14306,
M14301,
M14304,
BC113693,
BC069537,
M14303
Ensembl:
ENSG00000108255
KO:
hsa:1411
|
| Nucleutide sequences |
EMBL-CDS:
AAH69537.1,
AAA52107.1,
AAC50971.1,
AAI13694.1
Ensembl_TRS:
ENST00000225387
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000225387
RefSeq:
XP_016879687.1,
NP_005199.2
|
| Others |
UniRef100:
UniRef100_P05813
UniRef90:
UniRef90_P05813
UniRef50:
UniRef50_P05813
UniGene:
Hs.46275
CCDS:
CCDS11249.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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