PSENEN - presenilin enhancer, gamma-secretase subunit Gene

Homo sapiens

Also known as PEN2; PEN-2; MDS033; ACNINV2; MSTP064

Gene ID: 55851 | Gene type: protein coding

About PSENEN

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,745,651-35,747,519 (from NCBI)

This gene has 3 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 43.8), lung (RPKM 19.9) and 25 other tissues.

Summary

Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta Peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PSENEN Products(2)

mRNA	Protein	Name
NM_001281532.3	NP_001268461.1	gamma-secretase subunit PEN-2
NM_172341.4	NP_758844.1	gamma-secretase subunit PEN-2

PSENEN Protein Structure

PEN-2

0
101 a.a.

Protein Preferred Names

Protein Names

gamma-secretase subunit PEN-2

hematopoietic stem/progenitor cells protein MDS033

Related Diseases

Diseases

Alias

Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease

ACNINV2	Acne Inversa Familial
Hidradenitis Suppurativa Familial	Acne Inversa, Familial, 2

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Acne

Acne Vulgaris	Acne Varioliformis
Frontalis Acne

Hidradenitis Suppurativa

Acne Inversa	Suppurative Hidradenitis
Acne Inversa, Familial	Apocrinitis
Hidradenitides, Suppurative	Hidradenitis, Suppurative
Suppurative Hidradenitides	Inverse Acne

Hidradenitis

Hydradenitis

Anal Canal Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Anal Canal

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Sweat Gland Disease

Sweat Gland Diseases

Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Pain Agnosia

Analgesia

Agnosia

Dyspraxia	Primary Visual Agnosia
Dyspraxia Syndrome	Monomodal Visual Amnesia
Visual Amnesia	Agnosia, Primary Visual
Apraxias	Alexia

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11278	PSENEN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PSENEN	VGNC	VGNC:99688
Canis familiaris	PSENEN	VGNC	VGNC:53755
Bos taurus	PSENEN	VGNC	VGNC:99676
Rattus norvegicus	PSENEN	RGD	RGD:1312037
Mus musculus	PSENEN	MGD	MGI:1913590

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