PSEN2
Ensembl | |||||||||
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| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 1: 226.87 – 226.93 Mb | Chr 1: 180.05 – 180.09 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene.[5]
Function
Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Two alternative transcripts of PSEN2 have been identified.[6]
In melanocytic cells PSEN2 gene expression may be regulated by MITF.[7]
Interactions
PSEN2 has been shown to
interact
with:
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143801 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010609 – Ensembl, May 2017
- ^ "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.
- S2CID 27296868.
- ^ "Entrez Gene: PSEN2 presenilin 2 (Alzheimer disease 4)".
- PMID 19067971.
- PMID 10446169.
- PMID 9852298.
- PMID 10366599.
- S2CID 10799492.
- PMID 11278424.
- PMID 11001931.
- PMID 9437013.
- PMID 11847232.
- PMID 12297508.
- S2CID 4339220.
- PMID 11076969.
Further reading
- Cruts M, Van Broeckhoven C (1998). "Presenilin mutations in Alzheimer's disease". Hum. Mutat. 11 (3): 183–190. S2CID 37870910.
- McGeer PL, Kawamata T, McGeer EG (1998). "Localization and possible functions of presenilins in brain". Reviews in the Neurosciences. 9 (1): 1–15. S2CID 22791458.
- Nishimura M, Yu G, St George-Hyslop PH (1999). "Biology of presenilins as causative molecules for Alzheimer disease". Clin. Genet. 55 (4): 219–225. S2CID 35128500.
- da Costa CA (2006). "Recent insights on the pro-apoptotic phenotype elicited by presenilin 2 and its caspase and presenilinase-derived fragments". PMID 16375654.
- Wolfe MS (2007). "When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease". EMBO Rep. 8 (2): 136–140. PMID 17268504.
- De Strooper B (2007). "Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease". EMBO Rep. 8 (2): 141–146. PMID 17268505.
External links
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