PRCD - photoreceptor disc component Gene
Also Known as RP36
Species: Homo sapiens
About PRCD
This gene has 13 transcripts (splice variants), 66 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 1.8), adrenal (RPKM 1.0) and 23 other tissues.
Summary
This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
PRCD Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001077620.3 | NP_001071088.1 | photoreceptor disk component PRCD precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
24992209 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
24992209 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
24992209 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
24992209 | GOA |
| located in photoreceptor outer segment membrane |
IDA
IDA: Inferred from direct assay
|
27613864 | GOA |
PRCD Protein Structure
Rod_cone_degen: Progressive rod-cone degeneration (1 - 54)
- 0
- 54 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
photoreceptor disk component PRCD |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Retinitis Pigmentosa 36 |
|
|
| Retinitis Pigmentosa |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Fundus Dystrophy |
|
|
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
|
| Cone-Rod Dystrophy 1 |
|
|
| Macular Degeneration, X-Linked Atrophic |
|
|
| Retinitis Pigmentosa 17 |
|
|
| Corneal Dystrophy, Posterior Amorphous |
|
|
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
|
| Retinal Degeneration |
|
|
| Chronic Interstitial Cystitis |
|
|
| Bestrophinopathy, Autosomal Recessive |
|
|
| Late-Onset Retinal Degeneration |
|
|
| Sveinsson Chorioretinal Atrophy |
|
|
| Achromatopsia |
|
|
| Eye Degenerative Disease |
|
|
| Leber Plus Disease |
|
|