Laforin, encoded by the ''EPM2A''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
, is a
phosphatase
In biochemistry, a phosphatase is an enzyme that uses water to cleave a phosphoric acid Ester, monoester into a phosphate ion and an Alcohol (chemistry), alcohol. Because a phosphatase enzyme catalysis, catalyzes the hydrolysis of its Substrate ...
, with a
carbohydrate-binding domain, which is mutated in patients with
Lafora disease
Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in Myoclonus#Epilepsy forms, myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by t ...
.
It contains a dual specificity
phosphatase
In biochemistry, a phosphatase is an enzyme that uses water to cleave a phosphoric acid Ester, monoester into a phosphate ion and an Alcohol (chemistry), alcohol. Because a phosphatase enzyme catalysis, catalyzes the hydrolysis of its Substrate ...
domain (DSP) and a
carbohydrate binding module subtype 20 (CBM20). Its physiological
substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes
Lafora disease
Lafora disease is a rare, adult-onset and autosomal recessive genetic disorder which results in Myoclonus#Epilepsy forms, myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by t ...
is unknown, though there has been progress made in the study by Ortolano et al.
Laforin regulates autophagy via
Mammalian target of rapamycin
The mammalian target of rapamycin (mTOR), also referred to as the mechanistic target of rapamycin, and sometimes called FK506-binding protein 12-rapamycin-associated protein 1 (FRAP1), is a kinase that in humans is encoded by the ''MTOR'' gene. ...
, which is impaired in Lafora disease.
References
External links
GeneReviews/NCBI/NIH/UW entry on Progressive Myoclonus Epilepsy, Lafora Type
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