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Results 1-8 of about 8|
Details
  1. PAHnew windowpreview
    Offical Name: phenylalanine hydroxylase
    Other Aliases: PH, PKU, PKU1
    Organism: Homo sapiens
    Chromosome: 12
    Other Designations: phenylalanine hydroxylase
    Summary: PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq]
    Location: 12q22-q24.2
    NCBI Entrez Gene
  2. QDPRnew windowpreview
    Offical Name: quinoid dihydropteridine reductase
    Other Aliases: DHPR, PKU2, SDR33C1, FLJ42391
    Organism: Homo sapiens
    Chromosome: 4
    Other Designations: quinoid dihydropteridine reductase, 6,7-dihydropteridine reductase, short chain dehydrogenase/reductase family 33C, member 1
    Summary: This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq]
    Location: 4p15.31
    NCBI Entrez Gene
  3. GCH1new windowpreview
    Offical Name: GTP cyclohydrolase 1
    Other Aliases: GCH, DYT5, DYT14, DYT5a, GTPCH1, HPABH4B, GTP-CH-1
    Organism: Homo sapiens
    Chromosome: 14
    Other Designations: GTP cyclohydrolase 1, guanosine 5'-triphosphate cyclohydrolase I
    Summary: This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq]
    Location: 14q22.1-q22.2
    NCBI Entrez Gene
  4. PTSnew windowpreview
    Offical Name: 6-pyruvoyltetrahydropterin synthase
    Other Aliases: PTPS, FLJ97081
    Organism: Homo sapiens
    Chromosome: 11
    Other Designations: 6-pyruvoyltetrahydropterin synthase, PTP synthase, 6-pyruvoyl tetrahydrobiopterin synthase
    Summary: The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq]
    Location: 11q22.3-q23.3
    NCBI Entrez Gene
  5. MAOBnew windowpreview
    Offical Name: monoamine oxidase B
    Other Aliases: MGC26382
    Organism: Homo sapiens
    Chromosome: X
    Other Designations: monoamine oxidase B, MAO, brain, MAO, platelet, tyramine oxidase, adrenalin oxidase
    Summary: The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq]
    Location: Xp11.23
    NCBI Entrez Gene
  6. Pahnew windowpreview
    Offical Name: phenylalanine hydroxylase
    Organism: Rattus norvegicus
    Chromosome: 7
    Other Designations: phenylalanine hydroxylase
    Summary: catalyzes the conversion of phenylalanine to tyrosine; deficiency in humans causes genetic disorder phenylketonuria [RGD]
    Location: 7q13
    NCBI Entrez Gene
  7. S100Bnew windowpreview
    Offical Name: S100 calcium binding protein B
    Other Aliases: NEF, S100, S100beta
    Organism: Homo sapiens
    Chromosome: 21
    Other Designations: S100 calcium-binding protein, beta, S100 beta, OTTHUMP00000174958, S-100 calcium-binding protein, beta chain, S100 calcium binding protein, beta (neural), S100 calcium-binding protein, beta (neural)
    Summary: The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq]
    Location: 21q22.3
    NCBI Entrez Gene
  8. GSTZ1new windowpreview
    Offical Name: glutathione transferase zeta 1
    Other Aliases: MAI, MAAI, GSTZ1-1, MGC2029
    Organism: Homo sapiens
    Chromosome: 14
    Other Designations: glutathione transferase zeta 1, maleylacetone isomerase, maleylacetoacetate isomerase, glutathione S-aryltransferase, glutathione S-alkyltransferase, glutathione S-aralkyltransferase, glutathione s-transferase Zeta 1, S-(hydroxyalkyl)glutathione lyase
    Summary: This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq]
    Location: 14q24.3
    NCBI Entrez Gene