Presenilin-2 is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 that in humans is encoded by the PSEN2 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Function

Alzheimer's disease

Alzheimer's disease

Alzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...

 (AD) patients with an inherited form of the disease carry mutations in the presenilin

Presenilin

Presenilins are a family of related multi-pass transmembrane proteins that function as a part of the gamma-secretase intramembrane protease complex...

 proteins (PSEN1

PSEN1

Presenilin-1 is a protein that in humans is encoded by the PSEN1 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...

; PSEN2) or the amyloid precursor protein

Amyloid precursor protein

Amyloid precursor protein is an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. Its primary function is not known, though it has been implicated as a regulator of synapse formation, neural plasticity and iron export...

 (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid

Amyloid

Amyloids are insoluble fibrous protein aggregates sharing specific structural traits. Abnormal accumulation of amyloid in organs may lead to amyloidosis, and may play a role in various neurodegenerative diseases.-Definition:...

 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 that they either directly regulate gamma-secretase activity or themselves are protease

Protease

A protease is any enzyme that conducts proteolysis, that is, begins protein catabolism by hydrolysis of the peptide bonds that link amino acids together in the polypeptide chain forming the protein....

 enzymes. Two alternative transcripts of PSEN2 have been identified.

In melanocytic cells PSEN2 gene expression may be regulated by MITF

Microphthalmia-associated transcription factor

Microphthalmia-associated transcription factor is a basic helix-loop-helix leucine zipper transcription factor involved in melanocyte and osteoclast development.-Clinical significance:...

.

Interactions

PSEN2 has been shown to interact

Protein-protein interaction

Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...

 with UBQLN1

UBQLN1

Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain...

, FHL2

FHL2

Four and a half LIM domains protein 2 is a protein that in humans is encoded by the FHL2 gene.-Interactions:FHL2 has been shown to interact with Beta-catenin, Titin, Zinc finger and BTB domain-containing protein 16, Integrin, beta 6, Androgen receptor, ITGA7, CREB1, MAPK1, CD49c, ZNF638, BRCA1,...

, FLNB

FLNB

Filamin B, beta , also known as FLNB, is a human cytoplasmic protein. It regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal...

, BCL2-like 1

BCL2-like 1 (gene)

Bcl-2-like protein 1 is a protein that in humans is encoded by the BCL2L1 gene.-Interactions:BCL2-like 1 has been shown to interact with RAD9A, RTN1, BAK1, Reticulon 4, Bcl-2-associated X protein, BCAP31, Bcl-2-interacting killer, PPP1CA, Noxa, VDAC1, BCL2L11, Bcl-2-associated death promoter,...

, Nicastrin

Nicastrin

Nicastrin, also known as NCSTN, is a protein which in humans is encoded by the NCSTN gene.Nicastrin is a protein that is part of the gamma secretase protein complex, which is one of the proteases involved in processing amyloid precursor protein to the short Alzheimer's disease-associated peptide...

, KCNIP4

KCNIP4

Kv channel-interacting protein 4 is a protein that in humans is encoded by the KCNIP4 gene....

, CAPN1

CAPN1

Calpain-1 catalytic subunit is a protein that in humans is encoded by the CAPN1 gene.-External Links:* The MEROPS online database for peptidases and their inhibitors:...

, CIB1

CIB1

Calcium and integrin-binding protein 1 is a protein that in humans is encoded by the CIB1 gene.-Interactions:CIB1 has been shown to interact with RAC3, PSEN2, DNA-PKcs, UBR5 and CD61.-Further reading:...

 and Calsenilin

Calsenilin

Calsenilin is a protein that in humans is encoded by the KCNIP3 gene.-Interactions:Calsenilin has been shown to interact with PSEN1 and PSEN2.- External links :*...

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External Links

• GeneReviews/NCBI/NIH/UW entry on Early-Onset Familial Alzheimer Disease