Low-molecular-weight protein tyrosine phosphatase and human disease: in search of biochemical mechanisms.
A major challenge in the post-genomic era is to identify the physiological functions of genes and elucidate the molecular basis for human disease. Genetic polymorphisms offer a convenient avenue for these efforts by providing evidence for the involvement of a given gene in human pathophysiology. Here we review the current evidence linking the low-molecular-weight protein tyrosine phosphatase (LMPTP) to several common diseases, including allergy, asthma, obesity, myocardial hypertrophy, and Alzheimer's disease. Based on the known effects of the genetic polymorphisms on the alternative mRNA splicing and enzyme levels of LMPTP, we discuss the possible molecular mechanisms of LMPTP involvement in these diseases.
Bottini
Nunzio
N
Program of Signal Transduction, La Jolla Cancer Research Center, The Burnham Institute, CA 92037, USA.
Bottini
Egidio
E
Gloria-Bottini
Fulvia
F
Mustelin
Tomas
T
D017398:Alternative Splicing; D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics; D001172:Arthritis, Rheumatoid / Q000201:enzymology / Q000235:genetics; D001249:Asthma / Q000201:enzymology / Q000235:genetics; D001921:Brain / Q000201:enzymology; D006332:Cardiomegaly / Q000201:enzymology / Q000235:genetics; D003920:Diabetes Mellitus / Q000201:enzymology / Q000235:genetics; D005314:Embryonic and Fetal Development / Q000502:physiology; D005236:Favism / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D006967:Hypersensitivity / Q000201:enzymology / Q000235:genetics; D015212:Inflammatory Bowel Diseases / Q000201:enzymology / Q000235:genetics; D007527:Isoenzymes / Q000235:genetics* / Q000378:metabolism*; D008288:Malaria / Q000201:enzymology / Q000235:genetics; D009765:Obesity / Q000201:enzymology / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000378:metabolism*; D011518:Proto-Oncogene Proteins
D007527:Isoenzymes; D011518:Proto-Oncogene Proteins; C490429:ACP1 protein, human; D017027:Protein Tyrosine Phosphatases