Presenilin 2 / AD5 Recombinant Rabbit Monoclonal Antibody [PSH05-18] (HA722243)

UNIPROT #

P49810

PROTEIN NAME

Presenilin 2/AD5

SYNONYMS

AD3L antibody;AD3LP antibody;AD4 antibody;AD5 antibody;Alzheimer disease 4 antibody;CMD1V antibody;E5-1 antibody;OTTHUMP00000035671 antibody;OTTHUMP00000035672 antibody;OTTHUMP00000228286 antibody;OTTHUMP00000228288 antibody;Presenilin 2 (Alzheimer disease 4) antibody;Presenilin 2 antibody;Presenilin-2 CTF subunit antibody;PS-2 antibody;PS2 antibody;Psen2 antibody;PSN2_HUMAN antibody;PSNL2 antibody;STM-2 antibody;STM2 antibody

SUBCELLULAR LOCATION

Endoplasmic reticulum membrane, Golgi apparatus membrane.

FUNCTION

Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene. Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or 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. Two alternative transcripts of PSEN2 have been identified. In melanocytic cells PSEN2 gene expression may be regulated by MITF.