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RD3 retinal degeneration 3

Also known as: LCA12; C1orf36

Summary

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Genomic context

Location:
1q32.3
Sequence:
Chromosome: 1; NC_000001.11 (211476522..211492917, complement)
Total number of exons:
3

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