Varaico: Literature-Extracted Genetic Variants

Gene:PRCD
Variant:p.C2Y
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PRCD

NM_001077620.3:p.C2Y

Associated Papers

Prevalence of the SOD1, PRCD and SLC2A9 gene mutations responsible for degenerative myelopathy, progressive rod-cone degeneration, and hyperuricosuria in Polish population of Labrador Retriever dogs.

Rogalska-Niznik N et al.

Polish Journal of Veterinary Sciences, 2025

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Aberrant lipid accumulation and retinal pigment epithelium dysfunction in PRCD-deficient mice.

Motipally SI et al.

Experimental Eye Research, 2024

Aberrant lipid accumulation and retinal pigmental epithelium dysfunction in PRCD-deficient mice.

Motipally SI et al.

Biorxiv : the Preprint Server for Biology, 2024

Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration-Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data.

Clark JA et al.

Genes, 2023

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries.

Majchrakova Z et al.

Plos One, 2023

R17C Mutation in Photoreceptor Disc-Specific Protein, PRCD, Results in Additional Lipidation Altering Protein Stability and Subcellular Localization.

Myers B et al.

International Journal of Molecular Sciences, 2022

Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil.

Trecenti-Santana AS et al.

Frontiers in Veterinary Science, 2022

TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.

Remez L et al.

International Journal of Molecular Sciences, 2020

Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes.

Sechrest ER et al.

Scientific Reports, 2020

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.

Collin GB et al.

Cells, 2020

PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.

Allon G et al.

Human Molecular Genetics, 2019

Allele Frequency of the C.5G>A Mutation in the PRCD Gene Responsible for Progressive Retinal Atrophy in English Cocker Spaniel Dogs.

Andrade LR et al.

Animals : an Open Access Journal From Mdpi, 2019

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Mäkeläinen S et al.

Plos Genetics, 2019

PRCD Is a Small Disc-Specific Rhodopsin-Binding Protein of Unknown Function.

Spencer WJ et al.

Advances in Experimental Medicine and Biology, 2019

Different allelic frequency of progressive rod-cone degeneration in two populations of Labrador Retrievers in Japan.

Takanosu M

The Journal of Veterinary Medical Science, 2017

Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization.

Murphy J et al.

The Journal of Biological Chemistry, 2016

Progressive Rod-Cone Degeneration (PRCD) Protein Requires N-Terminal S-Acylation and Rhodopsin Binding for Photoreceptor Outer Segment Localization and Maintaining Intracellular Stability.

Spencer WJ et al.

Biochemistry, 2016

Real-time PCR genotyping assay for canine progressive rod-cone degeneration and mutant allele frequency in Toy Poodles, Chihuahuas and Miniature Dachshunds in Japan.

Kohyama M et al.

The Journal of Veterinary Medical Science, 2016

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.

Remez L et al.

Experimental Eye Research, 2014

Proteomic identification of unique photoreceptor disc components reveals the presence of PRCD, a protein linked to retinal degeneration.

Skiba NP et al.

Journal of Proteome Research, 2013

Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.

Pach J et al.

Molecular Vision, 2013

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Miyadera K et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ et al.

Journal of Medical Genetics, 2010

Real-time detection of the mutation responsible for progressive rod-cone degeneration in Labrador Retriever dogs using locked nucleic acid TaqMan probes.

Gentilini F et al.

Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc, 2009

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Zangerl B et al.

Genomics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."