PSENEN

GENE INFORMATION

? »

Gene name

PSENEN (HGNC Symbol)

Synonyms

PEN2

Description

Presenilin enhancer gamma secretase subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

19

Cytoband

q13.12

Chromosome location (bp)

36236015 - 36237911

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000205155 (version 75.37)

Entrez gene

55851

UniProt

Q9NZ42 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZ42

Antibodypedia

PSENEN antibodies
 

PROTEIN VIEW

? »
 
 
 
PSENEN-001
 
PSENEN-002
 
PSENEN-003
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSENEN-001 ENSP00000468411
ENST00000587708
Q9NZ42
Show all »
Show » Show » 101 12 No 2
PSENEN-002 ENSP00000222266
ENST00000222266
Q9NZ42
Show all »
Show » Show » 101 12 No 2
PSENEN-003 ENSP00000468593
ENST00000591949
K7ES79
Show all »
Show » 97 11.1 No 1