PRCD Gene: Progressive Rod-Cone Degeneration
Essential for Photoreceptor Outer Segment Integrity and Retinal Health
Gene Information Card
| Symbol | PRCD |
|---|---|
| Full Name | Progressive Rod-Cone Degeneration |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | Q9BVC6 |
| OMIM ID | 610598 |
| HGNC ID | 9340 |
| Aliases | RP36, PCD, PRCD1 |
Description
The PRCD gene encodes a small, highly conserved protein localized to the photoreceptor outer segment. It is essential for the structural integrity and survival of rod and cone photoreceptors. Loss-of-function mutations in PRCD cause autosomal recessive retinitis pigmentosa (RP36), characterized by progressive night blindness and visual field constriction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 36 (RP36) | Loss of PRCD protein disrupts photoreceptor outer segment disc morphogenesis, leading to progressive rod-cone degeneration. | OMIM #610598; ClinVar pathogenic variants |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 1.2 | Low |
| Testis | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 5.3 | Moderate expression |
| HEK293 (embryonic kidney) | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon; complete loss of protein function |
| c.58C>T (p.Arg20*) | Nonsense | Rare | Premature stop; nonsense-mediated decay |
| c.119G>A (p.Trp40*) | Nonsense | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic PRCD mutations are loss-of-function, leading to absence or dysfunction of the protein in photoreceptor outer segments.
Gain of Function (GOF)
No gain-of-function mutations have been described for PRCD.
Dominant Negative (DN)
No dominant-negative mechanism reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Photoreceptor outer segment (GO:0001750) | • Protein binding (GO:0005515) |
| • Visual perception (GO:0007601) | • Phototransduction (GO:0007602) |
Pathways
• Retinoid cycle
• Photoreceptor cell maintenance
Protein Summary
PRCD is a 54-amino acid protein with a single transmembrane domain, localized to the photoreceptor outer segment discs. It is thought to stabilize disc rim structure and facilitate proper disc shedding. Orthologs in dog and mouse confirm its critical role in preventing retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRCD Knockout HEK293 Cell Line | EDJ-KQ11287 | Human | 768206 | Details Get a Quote |
| PRCD Knockout HeLa Cell Line | EDJ-KQ60781 | Human | 768206 | Details Get a Quote |
| PRCD Knockout A-549 Cell Line | EDJ-KQ69250 | Human | 768206 | Details Get a Quote |
| PRCD Knockout HCT 116 Cell Line | EDJ-KQ77607 | Human | 768206 | Details Get a Quote |
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