Terminology Service for NFDI4Health
PSENEN wt Allele
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http://purl.obolibrary.org/obo/NCIT_C104808
Human PSENEN wild-type allele is located in the vicinity of 19q13.12 and is approximately 1 kb in length. This allele, which encodes gamma-secretase subunit PEN-2 protein, is involved in the regulation of both Notch-dependent signaling and intramembrane proteolysis. [ ]
Term info
Label
PSENEN wt Allele
Synonyms
- MDS033
- MSTP064
- PEN-2
- PEN2
- PSENEN wt Allele
- Presenilin Enhancer 2 Homolog (C. elegans) wt Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
Display Name
PSENEN wt Allele
EntrezGene ID
55851
GenBank Accession Number
AF220053
OMIM Number
607632
Preferred Name
PSENEN wt Allele
Semantic Type
Gene or Genome
UMLS CUI
C3541303
code
C104808
Term relations
Subclass of:
- PSENEN Gene
- Gene_Is_Element_In_Pathway some Syndecan-3-Mediated Signaling Pathway
- Gene_Is_Element_In_Pathway some Alzheimer's Disease Pathway KEGG
- Gene_Is_Element_In_Pathway some Notch Signaling Pathway
- Gene_Is_Element_In_Pathway some Nerve Growth Factor Receptor Signaling Pathway
- Gene_Is_Element_In_Pathway some Presenilin Action in Notch and Wnt Signaling Pathways