Table 1 of Burdon,
Mol Vis 2008; 14:1799-1804. Table 1 of Burdon,
Mol Vis 2008; 14:1799-1804.
Table 1. Known/putative function and ocular expression of candidate genes.
Gene |
Known/putative function |
Expression in human lens (NEIbanklibrary) | Expression
in other ocular tissue (NEIbanklibrary) |
Other comments |
|---|---|---|---|---|
| HSPB7 | Small heat shock protein, related to alpha-crystallins | NbLib0065 (fetal eye) | Alpha-crystallins associated with congenital cataract | |
| FBXO42 | Ligation of ubiquitin to proteins to signal as targets for degradation | NbLib0019, NbLib0021 | NbLib0065 (fetal eye), NbLib0079 (whole eye), NbLib0042 (retina), NbLib0072 (rpe/choroid) | Ubiquitin pathway implicated in lens fiber development and age-related cataract |
| EFHD2 | Calcium binding protein | NbLib0019, NbLib0021 | NbLib0065 (fetal eye), NbLib0124 (fetal eye) | Calcium regulates calpains, which cleave crystallins |
| ZBTB17 | Transcription factor, responds to cytoskeleton and cell-cell adhesion | NbLib0068 | Cytoskeleton is important in maintaining lens integrity | |
| CAPZB | Regulates growth of actin filament in cytoskeleton | NbLib0019, NbLib0021 NbLib0068, | ||
| FBLP1 | Cytoskeletal protein, localizes to cell-cell and cell-ECM junctions | |||
| ALDH4A1 | Proline metabolism | NbLib0068 | NbLib0065 (fetal eye), NbLib0124 (fetal eye) | Excess proline may accumulate in tissues |
| MFAP2 | Component of elastin microfibrils | NbLib0065 (fetal eye), NbLib0124 (fetal eye) | High expression in mouse embryonic lens |