RD3 gene

From NCBI Gene:

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]

Covered on Genetics Home Reference:

• Leber congenital amaurosis

From NCBI Gene:

• Leber congenital amaurosis 12

From UniProt:

Leber congenital amaurosis 12 (LCA12): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. [MIM:610612]

Cytogenetic Location: 1q32.3, which is the long (q) arm of chromosome 1 at position 32.3

Molecular Location: base pairs 211,476,522 to 211,492,917 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

• C1orf36
• LCA12