C95116Level 6
PSEN1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human PSEN1 wild-type allele is located in the vicinity of 14q24.3 and is approximately 87 kb in length. This allele, which encodes presenilin-1 protein, is involved in the modulation of proteolytic processing. Mutation of the gene is associated with early-onset Alzheimer disease and frontotemporal dementia.
**Synonyms:** - AD3 - Alzheimer Disease 3 Gene - FAD - PS1 - Presenilin 1 wt Allele - S182
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