Rabbit anti-Human Phospho-PSEN2 (S330) Polyclonal Antibody

Uniprot Id

P49810

Target Species

Human

Target Name

PSEN2

Target Full Name

Presenilin-2

Target Function

Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis. Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria.

Target Involvement

Alzheimer disease 4 (AD4); Cardiomyopathy, dilated 1V (CMD1V)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.

Target Protein Families

Peptidase A22A family

Target Tissue Specificity

Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney.

Target Synonyms

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

Target Background

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or 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 act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified.