2008-02-20

Mendel's studies in pea plants implied that the sum of an individual's phenotype was controlled by genes (or as he called them, unit factors), such that every

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. 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.

Peripherin gene

Gene Ontology (GO) annotations related to this gene include structural molecule activity. peripherin. Gene ID: 5630, updated on 22-Aug-2020. Gene type: protein coding. Also known as: NEF4; PRPH1.

1998-07-15

10 Jun 2020 related to gene product dosage effect. INTRODUCTION.

The overall structure of the peripherin gene is nine exons separated by eight introns. This configuration is conserved among the three known mammalian species with known coding for peripherin, namely human, rat and mouse.

2004; Ophthalmic Genet. 25: 133-145. Goto Top Yang,Z., Lin,W., Moshfeghi,D.M., Thirumalaichary,S., Li,X., Jiang,L., Zhang,H., Zhang,S., Kaiser,P.K., Traboulsi,E.I., and Zhang,K. kov, “ Peripherin and ATF3 genes are di ﬀ erentially regulated in regenerating and nonregenerating primary sensory neurons, ” Brain Research , vol. 1310, pp.

It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae. The RDS gene has been implicated in the mouse phenotype retinal degeneration slow, and mutations in the human Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 1.
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Nevertheless, the regulatory factors involved in the migration of BMMSCs remain largely unknown. In this study, we studied the role of the peripherin (PRPH) gene in regulating the ability of Wuzhishan mini pig (WZSP) BMMSCs to migrate in vitro.
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The mutation resulted in a substitution of aspartate with tyrosine at amino Murine peripherin gene sequences direct Cre recombinase expression to peripheral neurons in transgenic mice. Li Zhoua, Virginie Ne¤poteb, Daniel L. 2 Dec 1998 Since peripherin/RDS gene mutations result in photoreceptor cell degeneration, peripherin/RDS probably plays an essential role in disc 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 5 Mar 2021 PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Amyotrophic Lateral Sclerosis 1 and Lateral Sclerosis. 4 May 1992 peripherin gene ina subsetof neuronal cells.

In a large Irish pedigree with autosomal dominant retinitis pigmentosa-7 (RP7; 608133), Farrar et al. (1991) identified a 3-bp deletion in the RDS gene (179605.0001), resulting in loss of one of a pair of highly conserved cysteine residues in the predicted third transmembrane domain of peripherin (codon 118 or 119).The deletion segregated with the disease phenotype in the family.

Reaktivitet, Human. Värd, Rabbit. Peripherin/RDS.

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. Peripherin is predominantly found in the PNS (hence its name), but some CNS neurons also express peripherin. As described above, peripherin was identified as a gene that was increased in PC12 cells upon stimulation by nerve growth factor. Peripherin has also been shown to be upregulated following axonal injury. The PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye.