presenilin gene
either of two genes, PSEN1 (locus: 14q24.3) and PSEN2 (locus: 1q31-q42), encoding similar polypeptides found in many cell types both within and outside the brain and involved in cellular lipid metabolism; mutations are associated with early-onset autosomal dominant Alzheimer disease (q.v.).

Medical dictionary. 2011.

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  • Presenilin — protein Name=presenilin 1 (Alzheimer disease 3) caption= width= HGNCid=9508 Symbol=PSEN1 AltSymbols=AD3 EntrezGene=5663 OMIM=104311 RefSeq=NM 000021 UniProt=P49768 PDB= ECnumber= Chromosome=14 Arm=q Band=24.3 LocusSupplementaryData=protein… …   Wikipedia

  • presenilin — pre·sen·il·in prē .se nil ən n any of several proteins of cell membranes that are believed to contribute to the development of Alzheimer s disease * * * pre·se·nil·in (pre″sə nilґin) see under gene …   Medical dictionary

  • SRI (gene) — Sorcin, also known as SRI, is a human gene.cite web | title = Entrez Gene: SRI sorcin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=6717| accessdate = ] PBB Summary section title = summary text =… …   Wikipedia

  • Gamma secretase — is a multi subunit protease complex, itself an integral membrane protein, that cleaves single pass transmembrane proteins at residues within the transmembrane domain. The most well known substrate of gamma secretase is amyloid precursor protein,… …   Wikipedia

  • PSEN1 — Presenilin 1 (Alzheimer disease 3), also known as PSEN1, is a human gene. PBB Summary section title = summary text = Alzheimer s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) …   Wikipedia

  • PSEN2 — Presenilin 2 (Alzheimer disease 4), also known as PSEN2, is a human gene. PBB Summary section title = summary text = Alzheimer s disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) …   Wikipedia

  • PARL — Presenilin associated, rhomboid like Identifiers Symbols PARL; PSARL; PSARL1; PSENIP2; RHBDS1 External IDs …   Wikipedia

  • PEN-2 — presenilin enhancer 2 homolog (C. elegans) Identifiers Symbol PSENEN Entrez 55851 HUGO …   Wikipedia

  • Пресенилин-1 — presenilin 1 (Alzheimer disease 3) Обозначения Символы PSEN1; AD3 Entrez Gene …   Википедия

  • Пресенилин-2 — presenilin 2 (Alzheimer disease 4) Обозначения Символы PSEN2; AD4 Entrez Gene …   Википедия

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