| epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | EPM2A | ||||||
| NCBI gene | 7957 | ||||||
| HGNC | 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 carbohydrate-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
- ^ a b 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". Archived from the original on 2007-02-25. Retrieved 2007-03-28.
- ^ 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
 | This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it. |
| epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | EPM2A | ||||||
| NCBI gene | 7957 | ||||||
| HGNC | 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 carbohydrate-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
- ^ a b 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". Archived from the original on 2007-02-25. Retrieved 2007-03-28.
- ^ 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
|
| This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it. |