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Chemical Compound Review

phenylalanine     (2S)-2-amino-3-phenyl- propanoic acid

Synonyms: endophenyl, fenilalanina, Phenylalamine, Phenylalaninum, phenyl-Alanine, ...
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Disease relevance of L-phenylalanine


Psychiatry related information on L-phenylalanine

  • The IQ of the offspring was significantly correlated with both maternal IQ (r = 0.83, P less than 0.001) and maternal blood phenylalanine level (r = 0.82, P less than 0.001), but with one exception, mental retardation in offspring was present only when the maternal blood phenylalanine level exceeded 1100 mumol per liter (18 mg per deciliter) [1].
  • The PDAPP transgenic mouse, which overexpresses mutant human APP (in which the amino acid at position 717 is phenylalanine instead of the normal valine), progressively develops many of the neuropathological hallmarks of Alzheimer's disease in an age- and brain-region-dependent manner [6].
  • We interpret these data as follows: blood phenylalanine above 1.3 mM impairs performance on neuropsychological tests of higher integrative function, this effect is reversible, and one mechanism may involve impaired biogenic amine synthesis [7].
  • All members of 63 families who had phenylketonuric or hyperphenylalaninaemic offspring received a phenylalanine tolerance test and an individual intelligence test [8].
  • Addition of methyl jasmonate initiates de novo transcription of genes, such as phenylalanine ammonia lyase, that are known to be involved in the chemical defense mechanisms of plants [9].

High impact information on L-phenylalanine

  • Because all 38 FOX proteins and all 8 STOX1 homologs have either tyrosine or phenylalanine at position 153, the predominant Y153H variation is highly mutagenic by conservation criteria but subject to incomplete penetrance [10].
  • Conserved exchange determinants map to a common surface of the Vps9 domain, which recognizes invariant aromatic residues in the switch regions of Rab GTPases and selects for the Rab5 subfamily by requiring a small nonacidic residue preceding a critical phenylalanine in the switch I region [11].
  • TIP47 recognizes a phenylalanine/tryptophan signal in the tail of the cation-dependent MPR that is essential for its proper sorting within the endosomal pathway [12].
  • Affected individuals accumulate large quantities of homogentisic acid, an intermediary product of the catabolism of tyrosine and phenylalanine, which darkens the urine and deposits in connective tissues causing a debilitating arthritis [13].
  • PSGL-1 synthesized in the presence of sulfation inhibitors binds P-selectin weakly, and within the amino-terminal 20 residues, mutation of the tyrosines to phenylalanine abolishes binding [14].

Chemical compound and disease context of L-phenylalanine


Biological context of L-phenylalanine


Anatomical context of L-phenylalanine


Associations of L-phenylalanine with other chemical compounds


Gene context of L-phenylalanine

  • Cells expressing wild-type CFTR internalized more S. typhi than isogenic cells expressing the most common CFTR mutation, a phenylalanine deleted at residue 508 (delta508) [35].
  • Phenylalanine residues implicated in calmodulin localization and nuclear division are located in the amino-terminal half of the protein, whereas those implicated in actin organization and bud emergence are located in the carboxyl-terminal half [31].
  • The FGF8b-FGFR2c structure shows that alternative splicing permits a single additional contact between phenylalanine 32 (F32) of FGF8b and a hydrophobic groove within Ig domain 3 of the receptor that is also present in FGFR1c, FGFR3c, and FGFR4 [36].
  • The phosphorylated serine 990 and phenylalanine 993 of BACH1 anchor the binding to BRCA1 through specific interactions with a surface cleft at the junction of the two BRCT repeats [37].
  • A primed constant infusion of stable isotopically labeled phenylalanine was administered to the two CETP deficient subjects and control subjects and apo B kinetic parameters in VLDL, intermediate density lipoproteins, and LDL were obtained by using a multicompartmental model [38].

Analytical, diagnostic and therapeutic context of L-phenylalanine


  1. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. Levy, H.L., Waisbren, S.E. N. Engl. J. Med. (1983) [Pubmed]
  2. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. Lemna, W.K., Feldman, G.L., Kerem, B., Fernbach, S.D., Zevkovich, E.P., O'Brien, W.E., Riordan, J.R., Collins, F.S., Tsui, L.C., Beaudet, A.L. N. Engl. J. Med. (1990) [Pubmed]
  3. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. Lenke, R.R., Levy, H.L. N. Engl. J. Med. (1980) [Pubmed]
  4. Muscle proteolysis induced by a circulating peptide in patients with sepsis or trauma. Clowes, G.H., George, B.C., Villee, C.A., Saravis, C.A. N. Engl. J. Med. (1983) [Pubmed]
  5. Phenylketonuria due to a deficiency of dihydropteridine reductase. Kaufman, S., Holtzman, N.A., Milstien, S., Butler, L.J., Krumholz, A. N. Engl. J. Med. (1975) [Pubmed]
  6. Immunization with amyloid-beta attenuates Alzheimer-disease-like pathology in the PDAPP mouse. Schenk, D., Barbour, R., Dunn, W., Gordon, G., Grajeda, H., Guido, T., Hu, K., Huang, J., Johnson-Wood, K., Khan, K., Kholodenko, D., Lee, M., Liao, Z., Lieberburg, I., Motter, R., Mutter, L., Soriano, F., Shopp, G., Vasquez, N., Vandevert, C., Walker, S., Wogulis, M., Yednock, T., Games, D., Seubert, P. Nature (1999) [Pubmed]
  7. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man. Krause, W., Halminski, M., McDonald, L., Dembure, P., Salvo, R., Freides, D., Elsas, L. J. Clin. Invest. (1985) [Pubmed]
  8. Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia. Ford, R.C., Berman, J.L. Lancet (1977) [Pubmed]
  9. Jasmonic acid is a signal transducer in elicitor-induced plant cell cultures. Gundlach, H., Müller, M.J., Kutchan, T.M., Zenk, M.H. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  10. Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. van Dijk, M., Mulders, J., Poutsma, A., Könst, A.A., Lachmeijer, A.M., Dekker, G.A., Blankenstein, M.A., Oudejans, C.B. Nat. Genet. (2005) [Pubmed]
  11. Structure, exchange determinants, and family-wide rab specificity of the tandem helical bundle and Vps9 domains of Rabex-5. Delprato, A., Merithew, E., Lambright, D.G. Cell (2004) [Pubmed]
  12. TIP47: a cargo selection device for mannose 6-phosphate receptor trafficking. Díaz, E., Pfeffer, S.R. Cell (1998) [Pubmed]
  13. The molecular basis of alkaptonuria. Fernández-Cañón, J.M., Granadino, B., Beltrán-Valero de Bernabé, D., Renedo, M., Fernández-Ruiz, E., Peñalva, M.A., Rodríguez de Córdoba, S. Nat. Genet. (1996) [Pubmed]
  14. PSGL-1 recognition of P-selectin is controlled by a tyrosine sulfation consensus at the PSGL-1 amino terminus. Pouyani, T., Seed, B. Cell (1995) [Pubmed]
  15. Genetic basis of viral persistence: single amino acid change in the viral glycoprotein affects ability of lymphocytic choriomeningitis virus to persist in adult mice. Matloubian, M., Somasundaram, T., Kolhekar, S.R., Selvakumar, R., Ahmed, R. J. Exp. Med. (1990) [Pubmed]
  16. Effect of physiologic hyperinsulinemia on skeletal muscle protein synthesis and breakdown in man. Gelfand, R.A., Barrett, E.J. J. Clin. Invest. (1987) [Pubmed]
  17. Design of a membrane transport protein for fluorescence spectroscopy. Menezes, M.E., Roepe, P.D., Kaback, H.R. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  18. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Duquesnoy, P., Sobrier, M.L., Amselem, S., Goossens, M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  19. Rapid determination of nucleotides that define tRNA(Gly) acceptor identity. McClain, W.H., Foss, K., Jenkins, R.A., Schneider, J. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  20. Characterization of two different alkaline phosphatases in mouse teratoma: partial purification, electrophoretic, and histochemical studies. Wada, H.G., VandenBerg, S.R., Sussman, H.H., Grove, W.E., Herman, M.M. Cell (1976) [Pubmed]
  21. Activation of protein kinase C decreases phosphorylation of c-Jun at sites that negatively regulate its DNA-binding activity. Boyle, W.J., Smeal, T., Defize, L.H., Angel, P., Woodgett, J.R., Karin, M., Hunter, T. Cell (1991) [Pubmed]
  22. Mutagenesis of Fujinami sarcoma virus: evidence that tyrosine phosphorylation of P130gag-fps modulates its biological activity. Weinmaster, G., Zoller, M.J., Smith, M., Hinze, E., Pawson, T. Cell (1984) [Pubmed]
  23. The sequences of the small ribosomal RNA gene and the phenylalanine tRNA gene are joined end to end in human mitochondrial DNA. Crews, S., Attardi, G. Cell (1980) [Pubmed]
  24. Phosphorylation of tyrosine-416 is not required for the transforming properties and kinase activity of pp60v-src. Snyder, M.A., Bishop, J.M., Colby, W.W., Levinson, A.D. Cell (1983) [Pubmed]
  25. Peptide bond formation by in vitro selected ribozymes. Zhang, B., Cech, T.R. Nature (1997) [Pubmed]
  26. Hyperphenylalanemia: effect on brain polyribosomes can be partially reversed by other amino acids. Hughes, J.V., Johnson, T.C. Science (1977) [Pubmed]
  27. Nicotinic receptor binding site probed with unnatural amino acid incorporation in intact cells. Nowak, M.W., Kearney, P.C., Sampson, J.R., Saks, M.E., Labarca, C.G., Silverman, S.K., Zhong, W., Thorson, J., Abelson, J.N., Davidson, N. Science (1995) [Pubmed]
  28. Bimodal interaction of coatomer with the p24 family of putative cargo receptors. Fiedler, K., Veit, M., Stamnes, M.A., Rothman, J.E. Science (1996) [Pubmed]
  29. Nucleocytoplasmic transport: cargo trafficking across the border. Weis, K. Curr. Opin. Cell Biol. (2002) [Pubmed]
  30. Familial hyperinsulinemia due to a structurally abnormal insulin. Definition of an emerging new clinical syndrome. Haneda, M., Polonsky, K.S., Bergenstal, R.M., Jaspan, J.B., Shoelson, S.E., Blix, P.M., Chan, S.J., Kwok, S.C., Wishner, W.B., Zeidler, A. N. Engl. J. Med. (1984) [Pubmed]
  31. Diverse essential functions revealed by complementing yeast calmodulin mutants. Ohya, Y., Botstein, D. Science (1994) [Pubmed]
  32. Sickle hemoglobin aggregation: a new class of inhibitors. Votano, J.R., Gorecki, M., Rich, A. Science (1977) [Pubmed]
  33. Some neurons of the rat central nervous system contain aromatic-L-amino-acid decarboxylase but not monoamines. Jaeger, C.B., Teitelman, G., Joh, T.H., Albert, V.R., Park, D.H., Reis, D.J. Science (1983) [Pubmed]
  34. The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation. Abdelkhalek, H.B., Beckers, A., Schuster-Gossler, K., Pavlova, M.N., Burkhardt, H., Lickert, H., Rossant, J., Reinhardt, R., Schalkwyk, L.C., Müller, I., Herrmann, B.G., Ceolin, M., Rivera-Pomar, R., Gossler, A. Genes Dev. (2004) [Pubmed]
  35. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Pier, G.B., Grout, M., Zaidi, T., Meluleni, G., Mueschenborn, S.S., Banting, G., Ratcliff, R., Evans, M.J., Colledge, W.H. Nature (1998) [Pubmed]
  36. Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain. Olsen, S.K., Li, J.Y., Bromleigh, C., Eliseenkova, A.V., Ibrahimi, O.A., Lao, Z., Zhang, F., Linhardt, R.J., Joyner, A.L., Mohammadi, M. Genes Dev. (2006) [Pubmed]
  37. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Shiozaki, E.N., Gu, L., Yan, N., Shi, Y. Mol. Cell (2004) [Pubmed]
  38. Increased catabolic rate of low density lipoproteins in humans with cholesteryl ester transfer protein deficiency. Ikewaki, K., Nishiwaki, M., Sakamoto, T., Ishikawa, T., Fairwell, T., Zech, L.A., Nagano, M., Nakamura, H., Brewer, H.B., Rader, D.J. J. Clin. Invest. (1995) [Pubmed]
  39. Intravenous infusion of L-isomers of phenylalanine and tryptophan stimulate gastric acid secretion at physiologic plasma concentrations in normal subjects and after parietal cell vagotomy. McArthur, K.E., Isenberg, J.I., Hogan, D.L., Dreier, S.J. J. Clin. Invest. (1983) [Pubmed]
  40. Intradialytic parenteral nutrition improves protein and energy homeostasis in chronic hemodialysis patients. Pupim, L.B., Flakoll, P.J., Brouillette, J.R., Levenhagen, D.K., Hakim, R.M., Ikizler, T.A. J. Clin. Invest. (2002) [Pubmed]
  41. Trypsin suppression of pancreatic enzyme secretion. Differential effect on cholecystokinin release and the enteropancreatic reflex. Owyang, C., May, D., Louie, D.S. Gastroenterology (1986) [Pubmed]
  42. Neurological deterioration in young adults with phenylketonuria. Thompson, A.J., Smith, I., Brenton, D., Youl, B.D., Rylance, G., Davidson, D.C., Kendall, B., Lees, A.J. Lancet (1990) [Pubmed]
  43. Abnormal phenylalanine hydroxylation and tyrosine oxidation in a patient with acute fulminant liver disease with correction by liver transplantation. Hehir, D.J., Jenkins, R.L., Bistrian, B.R., Wagner, D., Moldawer, L.L., Young, V.R., Blackburn, G.L. Gastroenterology (1985) [Pubmed]
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