SORL1

Sortilin-related receptor, L(DLR class) A repeats containing
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsSORL1 ; C11orf32; LR11; LRP9; SORLA; SorLA-1; gp250
External IDsOMIM: 602005 HomoloGene: 2336 GeneCards: SORL1 Gene
Orthologs
SpeciesHumanMouse
Entrez665320660
EnsemblENSG00000137642ENSMUSG00000049313
UniProtQ92673O88307
RefSeq (mRNA)NM_003105NM_011436
RefSeq (protein)NP_003096NP_035566
Location (UCSC)Chr 11:
121.45 – 121.63 Mb		Chr 9:
41.96 – 42.12 Mb
PubMed search

Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.[1]

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.[2]

Clinical significance

Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease.[3] 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.[4] The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's.[5] A more recent study by a group of international researchers [6] supports the proposition that SORL1 plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata.[7]

See also

References

  1. ↑ "Entrez Gene: Sortilin-related receptor, L(DLR class) A repeats containing".
  2. ↑ "SORL1 sortilin-related receptor, L(DLR class) A repeats-containing [ Homo sapiens ]". Entrez Gene. United States National Center for Biotechnology Information. 10 January 2007. Retrieved 2007-01-15.
  3. ↑ Wade, Nicholas (15 January 2007). "Study Detects a Gene Linked to Alzheimer’s". The New York Times. Retrieved 2007-01-15.
  4. ↑ Scherzer CR, Offe K, Gearing M, Rees HD, Fang G, Heilman CJ et al. (Aug 2004). "Loss of apolipoprotein E receptor LR11 in Alzheimer disease". Archives of Neurology 61 (8): 1200–5. doi:10.1001/archneur.61.8.1200. PMID 15313836.
  5. ↑ Andersen OM, Reiche J, Schmidt V, Gotthardt M, Spoelgen R, Behlke J et al. (Sep 2005). "Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein". Proceedings of the National Academy of Sciences of the United States of America 102 (38): 13461–6. doi:10.1073/pnas.0503689102. PMC 1224625. PMID 16174740.
  6. ↑ Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F et al. (Feb 2007). "The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease" (– SCHOLAR SEARCH). Nature Genetics 39 (2): 168–77. doi:10.1038/ng1943. PMC 2657343. PMID 17220890. Advance online publication; Volume/Issue/Page available later
  7. ↑ Hall J (15 January 2007). "Canadian-led team links gene to Alzheimer's". Toronto Star. Retrieved 2007-01-15.

External links