C1ORF36
MIM.180040 1q32.3
The retinopathy-associated RD3 protein could be part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
Pathology
germline mutations of C1ORF36 in retinal degeneration or Leber congenital amaurosis locus 12 (LCA12) (MIM.610612)
Animal model
The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration.
References
Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet. 2006 Dec;79(6):1059-70. PMID: #17186464#