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Everything about Peripherin 2
Protein-coding gene in the species Homo sapiens
Peripherin-2 is a protein, that in humans is encoded by the PRPH2 gene. Peripherin-2 is found in the rod and cone cells of the retina of the eye. Defects in this protein result in one form of retinitis pigmentosa, an incurable blindness. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: Peripherin 2A 5-minute orientation
- Skim a recent paper: Peripherin is a biomarker of axonal damage in peripheral nervous system diseaseInfluential work since 2022
- Read the landmark paper: Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 LociCited 582 times
- Go sideways: ROM1A closely related topic
- Go sideways: FSCN2A closely related topic
📖 Definitions
No dictionary entry for this exact phrase.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration.
Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse.
Differential expression of two neuronal intermediate-filament proteins, peripherin and the low-molecular-mass neurofilament protein (NF-L), during the development of the rat
Late Onset Death of Motor Neurons in Mice Overexpressing Wild-Type Peripherin
🆕 Influential since 2022
Peripherin is a biomarker of axonal damage in peripheral nervous system disease
Role of the Intermediate Filament Protein Peripherin in Health and Disease
Cryo-EM structures of peripherin-2 and ROM1 suggest multiple roles in photoreceptor membrane morphogenesis
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
Peripherin, A New Promising Biomarker in Neurological Disorders
📚 Books worth reading
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🔗 Related topics
- ROM1 Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene. This gene is a member of a photoreceptor-specific gene family…
- FSCN2 Fascin-2 is a protein that in humans is encoded by the FSCN2 gene. This gene encodes a member of the fascin protein family. Fascins crosslink actin into…
- Retinitis pigmentosa Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. Symptoms include…
- RP1 Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene. This gene encodes…
- PDE6B Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is…
- Occult macular dystrophy Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part…
- TULP1 Tubby-related protein 1 is a protein that in humans is encoded by the TULP1 gene. TULP1 is a member of a family of tubby-like genes (TULPs) that encode…
- ELOVL4 Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene. ELOVL4 is a member of a large family of…