PEN2_HUMAN

Source: PM23856902
Marked as 'Integral membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PSENEN , PEN2 , MDS033
Protein names and data: PEN2_HUMAN , Gamma-secretase subunit PEN-2 , Presenilin enhancer protein 2 Lenght: 101 a.a.
Mass: 12029 Da
fasta formatted sequence
Function: Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.
Disease:
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.
Tissue specificity: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain.

Database cross-references

UniProt: Q9NZ42
Ensembl: ENST00000222266
Ensembl: ENST00000587708
MIM: 607632
MIM: 613736
neXtProt: NX_Q9NZ42
Antibodypedia: Q9NZ42 (may not find the protein thus also not any antibody)
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