Presenilin 1 / PS-1 Rabbit Polyclonal Antibody (HA500219)

UNIPROT #

P49768

PROTEIN NAME

Presenilin 1/PS-1

SYNONYMS

AD3 antibody;Ad3h antibody;FAD antibody;Homo Sapiens Clone CC44 Senilin 1 antibody;Presenilin-1 CTF12 antibody;Protein S182 antibody;PS 1 antibody;PS-1 antibody;PS1-CTF12 antibody;PSEN1 antibody;PSN1_HUMAN antibody;PSNL1 antibody;S182 antibody

SUBCELLULAR LOCATION

Endoplasmic reticulum, Endoplasmic reticulum membrane, Golgi apparatus membrane, Cell membrane, Early endosome, Early endosome membrane, Cytoplasmic granule, growth cone, neuron projection, axon, synapse.

FUNCTION

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined.