(Transmembrane Emp24-Like Trafficking Protein 10 (TMED10))
This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008].
Chen, Hasegawa, Schmitt-Ulms, Kawarai, Bohm, Katayama, Gu, Sanjo, Glista, Rogaeva, Wakutani, Pardossi-Piquard, Ruan, Tandon, Checler, Marambaud, Hansen, Westaway, St George-Hyslop, Fraser: "TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity." in: Nature, Vol. 440, Issue 7088, pp. 1208-12, (2006) (PubMed).
Periz, Fortini: "Functional reconstitution of gamma-secretase through coordinated expression of presenilin, nicastrin, Aph-1, and Pen-2." in: Journal of neuroscience research, Vol. 77, Issue 3, pp. 309-22, (2004) (PubMed).
Selkoe: "The cell biology of beta-amyloid precursor protein and presenilin in Alzheimer's disease." in: Trends in cell biology, Vol. 8, Issue 11, pp. 447-53, (1999) (PubMed).