SORL1

protein
Name=sortilin-related receptor, L(DLR class) A repeats-containing
caption=


width=
HGNCid=11185
Symbol=SORL1
AltSymbols=
EntrezGene=6653
OMIM=602005
RefSeq=NM_003105
UniProt=Q92673
PDB=
ECnumber=
Chromosome=11
Arm=q
Band=23.2
LocusSupplementaryData=-24.4

SORL1 (also known as SORLA, SORLA1, or LR11) is a neuronal apolipoprotein E receptor, the gene for which is predominantly expressed in the central nervous system [cite web
url = http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6653
title = SORL1 sortilin-related receptor, L(DLR class) A repeats-containing [ Homo sapiens ]
accessdate = 2007-01-15| date = 10 January 2007
work = Entrez Gene| publisher = United States National Center for Biotechnology Information] .

Connection with Alzheimer's disease

Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease [cite news
first = Nicholas | last = Wade
title = Study Detects a Gene Linked to Alzheimer’s
url = http://www.nytimes.com/2007/01/15/health/15newgene.html?em&ex=1168923600&en=a1433238cffd4800&ei=5087%0A
publisher = The New York Times | date = 15 January 2007 | accessdate = 2007-01-15] . Lack of the APOE receptor is suspected to be a contributory factor to Alzheimer's: a significant reduction in "SORL1" ("LR11") expression has been found in brain tissue of Alzheimer's disease patients [cite journal | author=Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ, Schaller C, Bujo H, Levey AI, Lah JJ |date=2004 |title=Loss of apolipoprotein E receptor LR11 in Alzheimer disease |journal=Arch Neurol. 61(8):1200-5 | pmid=15313836] . The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's [cite journal | author=Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J, von Arnim CA, Breiderhoff T, Jansen P, Wu X, Bales KR, Cappai R, Masters CL, Gliemann J, Mufson EJ, Hyman BT, Paul SM, Nykjaer A, Willnow TE|date=2005 |title=Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein |journal=Proc Natl Acad Sci 102(38):13461-6 | pmid=16174740] . A more recent study by a group of international researchers [cite journal
last = Rogaeva | first = Ekaterina
coauthors = Meng, Yan; Lee, Joseph H; Gu, Yongjun; Kawarai, Toshitaka; Zou, Fanggeng; Katayama, Taiichi; Baldwin, Clinton T; Cheng, Rong; Hasegawa, Hiroshi; Chen, Fusheng; Shibata, Nobuto; Lunetta, Kathryn L; Pardossi-Piquard, Raphaelle; Bohm, Christopher; Wakutani, Yosuke; Cupples, L Adrienne; Cuenco, Karen T; Green, Robert C; Pinessi, Lorenzo; Rainero, Innocenzo; Sorbi, Sandro; Bruni, Amalia; Duara, Ranjan; Friedland, Robert P; Inzelberg, Rivka; Hampe, Wolfgang; Bujo, Hideaki; Song, You-Qiang; Andersen, Olav M; Willnow, Thomas E; Graff-Radford, Neill; Petersen, Ronald C; Dickson, Dennis; Der, Sandy D; Fraser, Paul E; Schmitt-Ulms, Gerold; Younkin, Steven; Mayeux, Richard; Farrer, Lindsay A; St George-Hyslop, Peter.
date = 14 January 2007
title = The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
journal = Nature Genetics | volume = | issue = | pages = | doi = 10.1038/ng1943 | id =
url = http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng1943.html | accessdate = 2007-01-15
format = dead link|date=June 2008 – ^{[http://scholar.google.co.uk/scholar?hl=en&lr=&q=author%3A+intitle%3AThe+neuronal+sortilin-related+receptor+SORL1+is+genetically+associated+with+Alzheimer+disease&as_publication=Nature+Genetics&as_ylo=&as_yhi=&btnG=Search Scholar search]} "Advance online publication; Volume/Issue/Page available later"] supports the proposition that "SORL1" plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata [cite news
first = Joseph | last = Hall
title = Canadian-led team links gene to Alzheimer's
url = http://www.thestar.com/News/article/171155
publisher = Toronto Star | date = 15 January 2007 | accessdate = 2007-01-15] .

ee also

* Apolipoprotein E

External links

* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602005 SORL1 references] from NCBI.
* [http://www.nytimes.com/2007/01/15/health/15newgene.html?em&ex=1168923600&en=a1433238cffd4800&ei=5087%0A "Study Detects a Gene Linked to Alzheimer’s"] . N. Wade, New York Times, Jan. 15, 2007.

References