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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PRCD
photoreceptor disc component
Chromosome 17 Β· 17q25.1
NCBI Gene: 768206Ensembl: ENSG00000214140.11HGNC: HGNC:32528UniProt: Q00LT1
11PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumdetection of light stimulus involved in visual perceptionphotoreceptor outer segment membraneGolgi apparatusretinitis pigmentosaRetinal dystrophyPosterior column ataxia - retinitis pigmentosaeye disease
✦AI Summary

PRCD (photoreceptor disc component) is a small ~6 kDa integral membrane protein exclusively localized to photoreceptor outer segment disc membranes 1. PRCD functions as a rhodopsin-binding protein 1 and is required for proper disc morphogenesis and rhodopsin packaging. Loss of PRCD results in disoriented disc membranes with reduced rhodopsin incorporation and decreased packing density 2. PRCD localization depends on interactions with TULP1 and TUB proteins, which mediate vesicular trafficking to outer segments 3. Mutations in PRCD cause retinitis pigmentosa (RP36), a progressive photoreceptor degeneration 4. PRCD deficiency leads to progressive rod-cone degeneration characterized by reduced visual function and slow photoreceptor death 2. Beyond photoreceptor dysfunction, PRCD deficiency triggers dysregulation of retinal cholesterol homeostasis, with 5-fold increases in cholesteryl esters and aberrant lipid accumulation 5. This precipitates retinal pigment epithelium (RPE) dysfunction including impaired phagocytosis, lipofuscin accumulation, and Bruch's membrane deposits, phenotypically resembling age-related macular degeneration 5. The progressive RPE pathology likely exacerbates vision loss during disease progression. PRCD mutations represent a distinct genetic cause of RP 6, affecting multiple species including humans and canines.

Sources cited
1
PRCD is a ~6 kDa protein with unknown function that specifically resides in photoreceptor discs and interacts with rhodopsin
PMID: 31884666
2
PRCD loss results in disoriented disc membranes with fewer rhodopsin molecules and decreased rhodopsin packing density
PMID: 33087780
3
TULP1 and TUB proteins are required for PRCD localization to photoreceptor outer segment discs through protein-protein interactions
PMID: 33213002
4
PRCD mutations cause retinitis pigmentosa with progressive photoreceptor degeneration detectable by OCT and electroretinography
PMID: 39983972
5
PRCD deficiency causes 5-fold increase in retinal cholesteryl esters, RPE dysfunction, and AMD-like pathology including lipofuscin accumulation and drusenoid deposits
PMID: 39098587
6
PRCD mutations represent a distinct genetic locus causing progressive rod-cone degeneration in canines
PMID: 8603863
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.77Strong
Retinal dystrophyOpen Targets
0.51Moderate
Posterior column ataxia - retinitis pigmentosaOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.24Weak
genetic disorderOpen Targets
0.18Weak
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Cone rod dystrophyOpen Targets
0.06Suggestive
Leber congenital amaurosis 13Open Targets
0.05Suggestive
retinitis pigmentosa 87 with choroidal involvementOpen Targets
0.05Suggestive
choroideremiaOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.05Suggestive
Cleft lip - retinopathyOpen Targets
0.04Suggestive
cleft lip-retinopathy syndromeOpen Targets
0.04Suggestive
retinitis pigmentosa 96Open Targets
0.04Suggestive
Bardet-Biedl syndrome 13Open Targets
0.04Suggestive
retinitis pigmentosa 95Open Targets
0.04Suggestive
congenital stationary night blindnessOpen Targets
0.04Suggestive
retinal macular dystrophy type 2Open Targets
0.04Suggestive
Retinitis pigmentosa 36UniProt
Pathogenic Variants12
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)Pathogenic
Retinitis pigmentosa|Retinitis pigmentosa 36|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 1
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)Likely pathogenic
not provided|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2025β†’ Residue 38
NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter)Pathogenic
not provided|Retinal dystrophy|Retinitis pigmentosa 36|Retinitis pigmentosa
β˜…β˜…β˜†β˜†2025β†’ Residue 18
NM_001077620.3(PRCD):c.61_64del (p.Asn21fs)Pathogenic
Retinal dystrophy|not provided|Retinitis pigmentosa 36
β˜…β˜…β˜†β˜†2024β†’ Residue 21
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)Pathogenic
Retinitis pigmentosa 36|Retinitis pigmentosa|Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 22
NM_001077620.3(PRCD):c.74+1G>APathogenic
Retinitis pigmentosa|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2023
NM_001077620.3(PRCD):c.9del (p.Thr4fs)Likely pathogenic
Retinitis pigmentosa 36
β˜…β˜†β˜†β˜†2024β†’ Residue 4
NM_001077620.3(PRCD):c.74+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001077620.3(PRCD):c.70C>T (p.Gln24Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 24
NM_001077620.3(PRCD):c.75-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001077620.3(PRCD):c.102_111del (p.Arg35fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 35
NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr)Pathogenic
Retinitis pigmentosa
β˜…β˜†β˜†β˜†2020β†’ Residue 25
View on ClinVar β†—
Related Genes
RGS9BPShared pathway100%ROM1Protein interaction88%ABCA4Protein interaction82%CNGB1Protein interaction82%CNGA1Protein interaction82%GUCA1BProtein interaction82%
Tissue Expression6 tissues
Ovary
100%
Heart
78%
Brain
70%
Lung
69%
Liver
25%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
PRCDRGS9BPROM1ABCA4CNGB1CNGA1GUCA1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q00LT1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.24 [0.79–1.84]
RankingsWhere PRCD stands among ~20K protein-coding genes
  • #16,867of 20,598
    Most Researched11
  • #2,719of 5,498
    Most Pathogenic Variants12
  • #16,782of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedPRCD
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301590
1.00
2
Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice.
PMID: 39098587
Exp Eye Res Β· 2024
0.90
3
PRCD Is a Small Disc-Specific Rhodopsin-Binding Protein of Unknown Function.
PMID: 31884666
Adv Exp Med Biol Β· 2019
0.80
4
Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.
PMID: 8603863
Invest Ophthalmol Vis Sci Β· 1996
0.70
5
Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes.
PMID: 33087780
Sci Rep Β· 2020
0.60