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Browse result for Fanconi renotubular syndrome
※ introduction Fanconi syndrome or Fanconi's syndrome (English: /f¨»?n?ko?ni/, /f?n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules[1] of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions.[2] It results in various small molecules of metabolism being passed into the urine instead of being reabsorbed from the tubular fluid (for example, glucose, amino acids, uric acid, phosphate, and bicarbonate). Fanconi syndrome affects the proximal tubules, namely, the proximal convoluted tubule (PCT), which is the first part of the tubule to process fluid after it is filtered through the glomerulus, and the proximal straight tubule (pars recta), which leads to the descending limb of loop of Henle.
Reference
Wiki: Fanconi renotubular syndrome
Reference
Wiki: Fanconi renotubular syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05064 | P41235 | 3172 | HNF4A | Hepatocyte nuclear factor 4-alpha | Homo sapiens |
| PTMD06293 | Q08426 | 1962 | EHHADH | Peroxisomal bifunctional enzyme [Includes: Enoyl-CoA hydratase/3,2-trans-enoyl-CoA isomerase ; 3-hydroxyacyl-CoA dehydrogenase ] | Homo sapiens |
