Laforin: Difference between revisions
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'''Laforin''', encoded by the ''EPM2A'' [[gene]], is a [[phosphatase]], with a [[carbohydrate-binding module| carbohydate-binding domain]], which is mutated in patients with [[Lafora disease]].<ref name=Ortolano>{{cite journal| | '''Laforin''', encoded by the ''EPM2A'' [[gene]], is a [[phosphatase]], with a [[carbohydrate-binding module| carbohydate-binding domain]], which is mutated in patients with [[Lafora disease]].<ref name=Ortolano>{{cite journal | vauthors = Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C | title = Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease | journal = Molecular Brain | volume = 7 | pages = 7 | date = January 2014 | pmid = 24472629 | pmc = 3917365 | doi = 10.1186/1756-6606-7-7 }}</ref><ref>{{cite journal | vauthors = Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K | title = Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes | journal = Human Molecular Genetics | volume = 9 | issue = 15 | pages = 2251–61 | date = September 2000 | pmid = 11001928 | doi = 10.1093/oxfordjournals.hmg.a018916 }}</ref> It contains a dual specificity [[phosphatase]] domain (DSP) and a [[carbohydrate-binding module|carbohydrate binding module]] subtype 20<ref>{{cite web|title=CAZy - CBM|url=http://www.cazy.org/fam/acc_CBM.html}}</ref> (CBM20). Its physiological [[Substrate (biochemistry)|substrate]] has yet to be identified and the molecular mechanisms in which mutated laforin causes [[Lafora disease]] is unknown, though there has been progress made in the study by Ortolano et al.<ref name="Ortolano" /> Laforin regulates autophagy via [[Mammalian target of rapamycin]], which is impaired in Lafora disease.<ref>{{cite journal | vauthors = Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC | title = Laforin, the most common protein mutated in Lafora disease, regulates autophagy | journal = Human Molecular Genetics | volume = 19 | issue = 14 | pages = 2867–76 | date = July 2010 | pmid = 20453062 | pmc = 2893813 | doi = 10.1093/hmg/ddq190 }}</ref> | ||
==References== | == References == | ||
{{Reflist}} | {{Reflist}} | ||
==External links== | == External links == | ||
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lafora GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type] | * [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lafora GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type] | ||
{{gene-6-stub}} | {{gene-6-stub}} | ||
Latest revision as of 07:38, 10 February 2018
| epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |
|---|---|
| Identifiers | |
| Symbol | EPM2A |
| Entrez | 7957 |
| HUGO | 3413 |
| OMIM | 607566 |
| PDB | 4RKK |
| RefSeq | NM_001018041 |
| UniProt | O95278 |
| Other data | |
| Locus | Chr. 6 q24 |
Laforin, encoded by the EPM2A gene, is a phosphatase, with a carbohydate-binding domain, which is mutated in patients with Lafora disease.[1][2] It contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20[3] (CBM20). Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown, though there has been progress made in the study by Ortolano et al.[1] Laforin regulates autophagy via Mammalian target of rapamycin, which is impaired in Lafora disease.[4]
References
- ↑ 1.0 1.1 Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C (January 2014). "Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease". Molecular Brain. 7: 7. doi:10.1186/1756-6606-7-7. PMC 3917365. PMID 24472629.
- ↑ Ganesh S, Agarwala KL, Ueda K, Akagi T, Shoda K, Usui T, Hashikawa T, Osada H, Delgado-Escueta AV, Yamakawa K (September 2000). "Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes". Human Molecular Genetics. 9 (15): 2251–61. doi:10.1093/oxfordjournals.hmg.a018916. PMID 11001928.
- ↑ "CAZy - CBM".
- ↑ Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC (July 2010). "Laforin, the most common protein mutated in Lafora disease, regulates autophagy". Human Molecular Genetics. 19 (14): 2867–76. doi:10.1093/hmg/ddq190. PMC 2893813. PMID 20453062.
External links
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