Table 1 of Burdon, Mol Vis 2008; 14:1799-1804.

Table 1. Known/putative function and ocular expression of candidate genes.


Known/putative function
Expression in human lens (NEIbanklibrary) Expression in other ocular
tissue (NEIbank

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