Transmembrane emp24 domain-containing protein 10 is a
protein that in humans is encoded by the TMED10gene.[4][5][6]
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.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. (Aug 1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature. 375 (6534): 754–60.
doi:
10.1038/375754a0.
PMID7596406.
S2CID4308372.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Hörer J, Blum R, Feick P, et al. (1999). "A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II". DNA Seq. 10 (2): 121–6.
doi:
10.3109/10425179909008429.
PMID10376215.
Chen F, Hasegawa H, Schmitt-Ulms G, et al. (2006). "TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity". Nature. 440 (7088): 1208–12.
doi:
10.1038/nature04667.
PMID16641999.
S2CID4349251.
Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44.
doi:
10.1021/pr060363j.
PMID17081065.
Transmembrane emp24 domain-containing protein 10 is a
protein that in humans is encoded by the TMED10gene.[4][5][6]
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.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. (Aug 1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature. 375 (6534): 754–60.
doi:
10.1038/375754a0.
PMID7596406.
S2CID4308372.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Hörer J, Blum R, Feick P, et al. (1999). "A comparative study of rat and human Tmp21 (p23) reveals the pseudogene-like features of human Tmp21-II". DNA Seq. 10 (2): 121–6.
doi:
10.3109/10425179909008429.
PMID10376215.
Chen F, Hasegawa H, Schmitt-Ulms G, et al. (2006). "TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity". Nature. 440 (7088): 1208–12.
doi:
10.1038/nature04667.
PMID16641999.
S2CID4349251.
Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44.
doi:
10.1021/pr060363j.
PMID17081065.