RD3 gene

retinal degeneration 3, GUCY2D regulator

The information on this page was automatically extracted from online scientific databases.

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]

From UniProt:

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity).

Covered on Genetics Home Reference:

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 Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 1q32.3, which is the long (q) arm of chromosome 1 at position 32.3
  • C1orf36
  • LCA12