APH1A wt Allele

Preferred Label : APH1A wt Allele;

NCIt synonyms : Anterior Pharynx Defective 1 Homolog A Gene; Aph-1 Homolog A, Gamma-Secretase Subunit wt Allele; UNQ579/PRO1141; Aph1 Homolog A, Gamma-Secretase Subunit Gene; APH-1; 6530402N02Rik; Anterior Pharynx Defective 1, C. elegans, Homolog of, A Gene; APH1A Gamma Secretase Subunit Gene; Aph-1alpha; Anterior Pharynx Defective 1 Homolog A (C. elegans) Gene; PSF; APH-1A; CGI-78;

NCIt definition : Human APH1A wild-type allele is located in the vicinity of 1q21.2 and is approximately 4 kb in length. This allele, which encodes gamma-secretase subunit APH-1A protein, is involved in the stabilization of gamma-secretases complexes. Polymorphisms in the promoter region of this gene may be associated with an increased risk for sporadic Alzheimer's disease.;

GenBank Accession Number : AF151835;

Détails

Origin ID

C212951;

OMIM relation
- Aph1 homolog a, gamma secretase subunit [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
- Notch Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- Syndecan-3-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Regulated Intramembrane Proteolysis [NCIt concept]

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