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PAX6Paired Box Gene 6
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2 XL Aniridia AN2 PAX6 11p13 AD CSNB CSNB1 NYX Xp11.
The 1,802 transcripts up-regulated in NC cells compared to hESC (1,332 transcripts up-regulated in NC cells only in addition to 470 transcripts that up-regulated in both NC cells and NEP cells) included classical NC markers such as snail homolog 2 (Drosophila) (SNAI2; 154-fold), SOX9 (10-fold), and AP2 (TFAP2A; 8-fold], whereas the transcripts up-regulated in NEP cells comprised expected genes such as PAX6 (117-fold) and forkhead box G1 (FOXG1; 16-fold).
The biggest link was in the region where the PAX6 gene resides, leading scientists to suspect the gene plays a significant role in short sightedness.
The most strongly linked segment contains 44 genes, including one specified as PAX6, which is already well-known to vision researchers.
We didn't think PAX6 would be involved in myopia," says Hammond.
In particular, when two members of the PAX gene family, PAX 4 and PAX6, are absent, pancreatic insulin secreting beta-cells and glucagon secreting alpha-cells cannot be formed.