Biology:SPG11
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Spatacsin is a protein that in humans is encoded by the SPG11 gene.[1][2][3]
Function
Spatacsin, in combination with the SPG15 protein, attaches the AP5 adaptor complex to the outside of late Endosomes or Lysosomes when the protein via which it binds is in a particular state.[4]
Pathology
Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11.
References
- ↑ "Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15". Neurology 53 (1): 50–6. July 1999. doi:10.1212/wnl.53.1.50. PMID 10408536.
- ↑ "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum". Nature Genetics 39 (3): 366–72. March 2007. doi:10.1038/ng1980. PMID 17322883.
- ↑ "Entrez Gene: KIAA1840 KIAA1840". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80208.
- ↑ Hirst, Jennifer; Hesketh, Geoffrey G.; Gingras, Anne-Claude; Robinson, Margaret S. (2021-02-01). "Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex". The Journal of Cell Biology 220 (2): e202002075. doi:10.1083/jcb.202002075. ISSN 1540-8140. PMID 33464297.
Further reading
- "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia". Annals of Neurology 62 (6): 656–65. December 2007. doi:10.1002/ana.21310. PMID 18067136.
- "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 8 (2): 85–95. April 2001. doi:10.1093/dnares/8.2.85. PMID 11347906.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Induction of heat-stable enterotoxin receptor activity by a human Alu repeat". The Journal of Biological Chemistry 269 (24): 16610–7. June 1994. doi:10.1016/S0021-9258(19)89433-4. PMID 8206979.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
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