Protein family
The protein has not catalytic activity
Protein sequence
Protein function
Catalytic activity
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1H4A | 1.15 | Human GammaD Crystallin R58H mutant structure AT 1.15 A resolution |
| 1HK0 | 1.25 | Human GammaD Crystallin Structure at 1.25 A Resolution |
| 2G98 | 2.2 | human gamma-D-crystallin |
| 2KFB | The structure of the cataract causing P23T mutant of human gamma-D crystallin | |
| 2KLJ | Solution Structure of gammaD-Crystallin with RDC and SAXS | |
| 4GR7 | 1.7 | The human W42R Gamma D-Crystallin Mutant Structure at 1.7A Resolution |
| 4JGF | 2.5 | Crystal Structure of the Cataract-Causing P23T gamma D-Crystallin Mutant |
| 6ETA | 2.198 | Crystal Structure of Human Gamma-D crystallin Mutant P23T+R36S at Room Temperature |
| 6ETC | 1.197 | Crystal Structure of Human gamma-D-crystallin Mutant P23T+R36S at 1.2 Angstroms Resolution |
| 6W5B | 1.15 | N124D Deamidation Mutant of Human gammaD-Crystallin |
| 6WCY | 1.204 | N160D Deamidation Mutant of Human gammaD-Crystallin |
| 7P53 | 1.57 | Crystal Structure of Human gamma-D-crystallin mutant C110M at 1.57 Angstroms resolution |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0034614 | cellular response to reactive oxygen species |
| Biological Process | GO:0002088 | lens development in camera-type eye |
| Biological Process | GO:0070306 | lens fiber cell differentiation |
| Biological Process | GO:0007601 | visual perception |
| Molecular Function | GO:0005212 | structural constituent of eye lens |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0005634 | nucleus |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000482 | Microcornea |
| HP:0000518 | Cataract |
| HP:0000519 | Developmental cataract |
| HP:0000545 | Myopia |
| HP:0000612 | Iris coloboma |
| HP:0000639 | Nystagmus |
| HP:0001131 | Corneal dystrophy |
| HP:0007957 | Corneal opacity |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| cataract 4 multiple types | MONDO:0007281 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:115700 | Orphanet:91492 |
| cataract 4 multiple types | MONDO:0007281 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:115700 | Orphanet:98989 |
| cataract 4 multiple types | MONDO:0007281 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:115700 | Orphanet:98990 |
| cataract 4 multiple types | MONDO:0007281 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:115700 | Orphanet:98991 |
| cataract 4 multiple types | MONDO:0007281 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:115700 | Orphanet:98995 |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98984 | |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98986 | |
| pulverulent cataract | MONDO:0011430 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98995 | |
| cataract - microcornea syndrome | MONDO:0015300 | Q13 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:1377 | |
| early-onset lamellar cataract | MONDO:0018611 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:441452 | |
| cerulean cataract | MONDO:0020374 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98989 | |
| coralliform cataract | MONDO:0020375 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98990 | |
| early-onset nuclear cataract | MONDO:0020376 | Q12 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | Orphanet:98991 |