psen1 - presenilin 1
Predicted to enable aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within several processes, including amyloid-beta formation; cell surface receptor signaling pathway; and optomotor response. Located in membrane. Is expressed in blastomere; brain; female organism; heart; and male organism. Used to study Alzheimer's disease; Alzheimer's disease 3; and hidradenitis suppurativa. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). [provided by Alliance of Genome Resources, Dec 2024]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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