PSEN2 Membrane Protein Introduction

Introduction of PSEN2

Presenilin 2 (PSEN2) is a protein that is encoded by the PSEN2 gene in humans. PSEN2 is driven by two separate promoter elements P1 and P2, which are located in exon 1 and exon 2, respectively. Upstream P1 is a housekeeping promoter. The psen2-p1 activity is dependent on a stimulating protein 1 binding site, at up to 5 start sites. Downstream P2 is caused by Egr-1, which inhibits the activity of psen2-p1. Interestingly, one study showed that Egr-1 did not regulate the PSEN2 promoter in the mouse.

Basic Information of PSEN2
Protein Name	Presenilin-2
Gene Name	PSEN2
Aliases	AD3LP, AD5, E5-1, STM-2
Organism	Homo sapiens (Human)
UniProt ID	P49810
Transmembrane Times	8
Length (aa)	448
Sequence	MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPGRPPGLEEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIVVMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPLVLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVGKAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI

Function of PSEN2 Membrane Protein

The genetic form of the disease in patients with Alzt's disease (AD) carries a mutation in the presenilin protein (PSEN1; PSEN2) or amyloid precursor protein (APP). These disease-associated mutations result in increased production of longer amyloid, the major component of amyloid deposits found in the AD brain. "Elderly" is thought to regulate the processing of the application by affecting gamma secretase, an enzyme that can be used for cleavage, and it is believed that premature aging is related to the cleavage of the Notch receptor. So they either directly regulate the activity of gamma secretase, or they are proteases themselves. Two alternative transcripts of PSEN2 have been identified. In melanocytes, PSEN2 gene expression can be regulated by MITF.

Fig.1 The structure of Presenilin-2.

Application of PSEN2 Membrane Protein in Literature

Park K. W., et al. A Case of Possibly Pathogenic PSEN2 R62C Mutation in a Patient with Probable Early-Onset Alzheimer’s Dementia Supported by Structure Prediction. Clinical Interventions in Aging. 2017, (12): 367–375. PubMed ID: 28243073

In this article, two different structures were found in the predictive analysis of the silicate protein structure of PSEN2 R62 and C62, suggesting that large perturbations of the R62C mutation may result in dysregulation of PSEN2, which may alter normal amyloid production.
Cai Y., et al. Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders. Clinical Interventions in Aging. 2015, (10):1163-1172. PubMed ID: 26203236

This article summarizes the PSEN2 mutations and the potential effects of these mutations in dementia-related diseases.
Ortiz-Virumbrales M., et al. CRISPR/Cas9-Correctable Mutation-Related Molecular and Physiological Phenotypes in iPSC-Derived Alzheimer’s PSEN2N141I Neurons. Acta Neuropathologica Communications. 2017, (5): 77. PubMed ID: 29078805

Genomic editing data confirmed the robustness of mutation-related changes in the Aβ42/40 ratio and also showed electrophysiological changes associated with the psen2 mutation.
Lanoiselée H. M., et al. APP, PSEN1, and PSEN2 Mutations in Early-Onset Alzheimer Disease: A Genetic Screening Study of Familial and Sporadic Cases. PLoS Medicine. 2017,14 (3): e1002270. PubMed ID: 28350801

These results suggest that the non-negligible part of the PSEN1 mutation occurs in newborns, which is important for gene counseling because PSEN1 mutation screening is currently only performed in family cases.
Youn Y. C., et al. Probable Novel PSEN2 Val214Leu Mutation in Alzheimer’s Disease Supported by Structural Prediction. BMC Neurology. 2014, (14): 105. PubMed ID: 24885952

The authors predicted the structure of the PSEN2, the native Val 214 residue and the Leu 214 mutation, revealing significant structural changes in this region.

PSEN2 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-PSEN2 antibody development services.

Creative Biolabs' skillful scientists are glad to leverage our expertise and advanced technologies to help you with the member protein research. If you are interested, please feel free to contact us for more details.

All listed services and products are For Research Use Only. Do Not use in any diagnostic or therapeutic applications.

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