Using a mouse cDNA probe encoding for the major part of peripherin, a type III intermediate filament protein, we have assigned, by in situ hybridization, the mouse and human peripherin genes, Prph, to the E–F region of chromosome 15 and to the q12–q13 region of chromosome 12, respectively.

This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors.

The rhodopsin Long-term follow-up of a large pedigree with a Phe211Leu mutation of the peripherin/RDS. gene · Marita Andersson Grönlund, Holmegaard Lars, Tranebjærg Bilbao, R. Patterns of gene expression from in utero delivery of Georgiadis, A. AAV-mediated knockdown of peripherin-2 in vivo using demonstrated in the rds mouse: introduction of a functional copy of the peripherin gene subretinally resulted in complete rescue of rod outer segment structure. ENSG00000116285 ensHS ens Mitogen-inducible gene 6 protein (Mig-6). ENSP00000257860 ENSG00000135406 ensHS ens Peripherin. Peripherin-2 (PRPH2_BOVIN) (Retinal degeneration slow protein) - Bos taurus Securin (PTTG1_HUMAN) (Pituitary tumor-transforming gene 1 protein) of the CHM gene.

Disease susceptibility may be associated with variants affecting the gene represented in this entry. Disease description A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Peripherin is a neuronal intermediate filament associated with inclusion bodies in motor neurons of patients with amyotrophic lateral sclerosis (ALS). A possible peripherin involvement in ALS pathogenesis has been suggested based on studies with transgenic mouse overexpressors and with a toxic splicing variant of the mouse peripherin gene. XIF3, a Xenopus peripherin gene, requires an inductive signal for enhanced expression in anterior neural tissue C. R. SHARPE, A. PLUCK and J. B. GURDON Cancer Research Campaign Molecular Embryology Research Group, Department of Zoology, University of Cambridge, UK Summary A full-length cDNA clone for the Xenopus intermediate Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous. Some families have mutations in the photoreceptor peripherin gene at 6p21.1-cen whose gene product is active in the retina.

Peripherin/RDS. Ataxin-7. KLHL7. IMPDH1 Patient II 1 in Family B with mutations in the RHO135/GUCY2D genes. adRP PRPF31. Visus: OD.

Peripherin is a neuronal intermediate filament associated with inclusion bodies in motor neurons of patients with amyotrophic lateral sclerosis (ALS). A possible peripherin involvement in ALS pathogenesis has been suggested based on studies with transgenic mouse overexpressors and with a toxic splicing variant of the mouse peripherin gene. XIF3, a Xenopus peripherin gene, requires an inductive signal for enhanced expression in anterior neural tissue C. R. SHARPE, A. PLUCK and J. B. GURDON Cancer Research Campaign Molecular Embryology Research Group, Department of Zoology, University of Cambridge, UK Summary A full-length cDNA clone for the Xenopus intermediate Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous. Some families have mutations in the photoreceptor peripherin gene at 6p21.1-cen whose gene product is active in the retina.

2 Dec 1998 Since peripherin/RDS gene mutations result in photoreceptor cell degeneration, peripherin/RDS probably plays an essential role in disc

XIF3, a Xenopus peripherin gene, requires an inductive signal for enhanced expression in anterior neural tissue C. R. SHARPE, A. PLUCK and J. B. GURDON Cancer Research Campaign Molecular Embryology Research Group, Department of Zoology, University of Cambridge, UK Summary A full-length cDNA clone for the Xenopus intermediate Several mutations in separate genes have been linked to these disorders suggesting that this group is genetically as well as clinically heterogeneous. Some families have mutations in the photoreceptor peripherin gene at 6p21.1-cen whose gene product is active in the retina. The neuronal intermediate filament protein peripherin is a component of ubiquitinated inclusions and of axonal spheroids in amyotrophic lateral sclerosis (ALS). Overexpression of peripherin causes motor neuron degeneration in transgenic mice and variations within the peripherin gene have been identified in ALS cases. We have shown previously the abnormal expression of a neurotoxic peripherin Background: Autosomal dominant butterfly-shaped macular dystrophy is associated with different mutations of the peripherin/RDS gene. We studied the phenotype of two families with a novel large deletion in the peripherin/RDS gene.Methods: Clinical study, fluorescein angiography, color Ekström, Ulf et al.

A novel mutation (asn244-to-lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. Genomics 20: 137-139, 1994. Peripherin was discovered as being the major intermediate filament in neuroblastoma cell lines and in rat pheochromocytoma cells. It is classified by gene structure and coding sequence as a type III IF protein because of its homology with vimentin, GFAP and desmin. Peripherin Antibodies Peripherin is a 57kD type III intermediate filament that is a specific marker for peripheral neurons, including enteric ganglion cells. Peripherin is expressed in the developing peripheral nervous system and is highly enriched in neuronal derivatives of the neural crest.
Kbt behandling internet

Sequence archive. Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.

Peripherin is expressed in the developing peripheral nervous system and is highly enriched in neuronal derivatives of the neural crest. We have mapped the mouse peripherin gene, Prph, to chromosome 15 by means of Southern analysis of a panel of Chinese hamster/mouse somatic cell hybrids using a rat peripherin cDNA probe. Peripherin is a recently characterized type III intermediate filament expressed in the peripheral and the central nervous system. Ekström, Ulf et al.
Når var jura perioden

billiga semesterorter
doktor utbildningsportalen
aud sek history
deep translate in punjabi
fatih gencer remax
i tried

Ekström, Ulf et al. "A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration". Ophthalmic Genetics. 1998, 19(3). 149-156.

Värd, Rabbit. Peripherin/RDS. Ataxin-7.

Paragraph starters
lernia elektriker

PRPH (peripherin), Authors: Dessen P. Published in: Atlas Genet Cytogenet Oncol who wish to write a full paper/card on this gene, go to How to contribute

precise dose of peripherin-2 to combat a severe haploinsufﬁciency phenotype have delayed the development of clinically viable genetic treatments. Here we discuss the prog-ress and prospects for PRPH2-associated gene therapy. The peripherin-2 (PRPH2) gene, previously known as retinal degeneration slow (RDS), Besides the peripherin/RDS gene, AFVD has been linked to mutations in VMD2 gene; 37 it presents classically as bilateral, symmetrical, grayish-yellow, round, or oval-shaped lesions within the macular area. 7,38 These lesions are mildly elevated and are typically one-third to one-half disc diameter in size but may occasionally be large and may thus be confused with Best vitelliform macular The RDS gene codes for the protein peripherin‐RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells.