Table 5.
Other genes implicated with AMD based on case-control association studies
| Gene | Name | Ensemble cytogenetic band | “Known” Function (based on Entrez gene summary and UniProtKB/Swiss-Prot summary) | Reference |
|---|---|---|---|---|
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| MYRIP | Myosin VIIA and Rab interacting protein | 3p22.1 | Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. | (Kopplin et al., 2010) |
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| CACNG3 | Calcium channel, voltage-dependent, gamma subunit 3 | 16p12.1 | Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs) | (Spencer et al., 2011b) |
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| IGF1R | IGF binding protein 1 | 15q26.3 | This receptor has high affinity binding for insulin-like growth factor. The receptor plays a critical role in cellular proliferation and survival. | (Chiu et al., 2011) |
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| B3GALTL | Beta 1,3 galactosyltransferase- like | 13q12.3 | The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. | AMD gene consortium* |
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| ADAMTS9 | ADAM metallopeptidase with thrombospondin type 1 motif, 9 | 3p14.1 | A member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Implicated in the cleavage of proteoglycans and the inhibition of angiogenesis | AMD gene consortium* |
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| RAD51B | RAD51 homolog B (S. cerevisiae) | 14q24.1 | The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. | AMD gene consortium* |
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| TNFRSF10A | Tumor necrosis factor receptor superfamily, member 10a | 8p21.3 | The receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and activates a death-inducing signaling complex (DISC) using caspase-8 proteolytic activation of the caspase cascade that causes apoptosis. | AMD gene consortium* |
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| IER3 | Immediate early response 3 | 6p21.33 | The gene product functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. In close proximity with DDR1 thus the AMD- SNP could be associated with either gene. | AMD gene consortium* |
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| DDR1 | Discoidin domain receptor 1 | 6p21.33 | The protein belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain. The receptor is activated by several types of collagen. In close proximity with IER3, thus the AMD- SNP could be associated with either gene. | AMD gene consortium* |
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| COL15A1 | Collagen, type XV, alpha 1 | 9q22.33 | Alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen strongest expression in basement membrane zones and thought to play a role in microvessel stability. Similar to COL18A1 that is cleaved to generate endostatin, a potent inhibitor of angiogenesis. In close proximity with TGFBR1 thus the AMD- SNP could be associated with either gene. | AMD gene consortium* |
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| TGFBR1 | Transforming growth factor, beta receptor 1 | 9q22.33 | The serine/threonine protein kinase forms a heteromeric complex with type II TGF-beta receptors and transduces the TGF-beta signal from the cell surface to the cytoplasm. | AMD gene consortium* |
| In close proximity with COL15A1 thus the AMD- SNP could be associated with either gene. | ||||