Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ion transporters are a group of integral membrane proteins which, like enzymes, can be regulated at multiple levels. Understanding of function and regulation of these proteins has been greatly facilitated by the knowledge of their molecular structures. In this article, we discuss the various approaches used in the cloning of these proteins. We then focus on genetic disorders known to be caused by abnormal structure of the transporter protein including cystic fibrosis, generalized myotonia and myotonia congenita, hyperkalemic periodic paralysis, hereditary ovalocytosis, hereditary spherocytosis and glucose malabsorption. Renal disorders thought, but not proved, to be due to abnormal transporter structure/function are briefly mentioned.
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PMID:Molecular cloning of ion transporters: potential clinical implications. 775 53

Transport proteins such as channels and transporters play important roles in the maintenance of intracellular homeostasis. Genes for transport proteins have been cloned one after the other in recent years, and mutations in these transport protein genes have been identified in the pathogenesis of a number of hereditary diseases. These diseases include Liddle's syndrome, long QT syndrome, hyperkalemic periodic paralysis, cystic fibrosis, myotonia congenita, nephrogenic diabetes inspidus, glucose/galactose malabsorption, cystinuria, and Wilson's disease. Gene mutations in several receptors, including vasopressin V2 receptor, dihydropyridine receptor, and Ca2+ -sensing receptor, also cause disorders of membrane transport, leading to diseases. Further advances in basic science are expected to provide us with a detailed understanding of the abnormality in the 3rd/4th structure of mutated transport proteins.
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PMID:[Diseases caused by disorders of membrane transport: an overview]. 890 8