PSENEN presenilin enhancer, gamma-secretase subunit
Gene ID: 55851, updated on 5-Mar-2024Gene type: protein coding
Also known as: PEN2; PEN-2; MDS033; ACNINV2; MSTP064
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- Go to complete Gene record for PSENEN
- Go to Variation Viewer for PSENEN variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acne inversa, familial, 2 | See labs |
Genomic context
- Location:
- 19q13.12
- Sequence:
- Chromosome: 19; NC_000019.10 (35745651..35747519)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PSENEN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PSENEN database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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