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alpha-Mannosidosis
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D008363 |
[An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
] |
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alpha-Methyltyrosine
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D019805 |
[An inhibitor of the enzyme TYROSINE 3-MONOOXYGENASE, and consequently of the synthesis of catecholamines. It is used to control the symptoms of excessive sympathetic stimulation in patients with PHEOCHROMOCYTOMA. (Martindale, The Extra Pharmacopoeia, 30th ed)
] |
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alpha-N-Acetylgalactosaminidase
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D048809 |
[A hexosaminidase with specificity for terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides.
] |
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alpha-Synuclein
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D051844 |
[A synuclein that is a major component of LEWY BODIES and plays a role in SYNUCLEINOPATHIES, neurodegeneration and neuroprotection.
] |
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alpha-Thalassemia
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D017085 |
[A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
] |
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alpha-Tocopherol
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D024502 |
[A natural tocopherol and one of the most potent antioxidant tocopherols. It exhibits antioxidant activity by virtue of the phenolic hydrogen on the 2H-1-benzopyran-6-ol nucleus. It has four methyl groups on the 6-chromanol nucleus. The natural d form of alpha-tocopherol is more active than its synthetic dl-alpha-tocopherol racemic mixture.
] |
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alpha7 Nicotinic Acetylcholine Receptor
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D064569 |
[A member of the NICOTINIC ACETYLCHOLINE RECEPTOR subfamily of the LIGAND-GATED ION CHANNEL family. It consists entirely of pentameric α7 subunits expressed in the CNS, autonomic nervous system, vascular system, lymphocytes and spleen.
] |
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bcl-2 Homologous Antagonist-Killer Protein
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D050998 |
[A multi-domain mitochondrial membrane protein and member of the bcl-2 Protein family. Bak protein interacts with TUMOR SUPPRESSOR PROTEIN P53 and promotes APOPTOSIS.
, An isoform of Bak protein containing only the N-terminal BH3 domain. N-Bak promotes neuronal apoptosis.
] |
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bcl-2-Associated X Protein
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D051028 |
[A member of the Bcl-2 protein family and homologous partner of C-BCL-2 PROTO-ONCOGENE PROTEIN. It regulates the release of CYTOCHROME C and APOPTOSIS INDUCING FACTOR from the MITOCHONDRIA. Several isoforms of BCL2-associated X protein occur due to ALTERNATIVE SPLICING of the mRNA for this protein.
] |
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bcl-Associated Death Protein
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D051025 |
[A pro-apoptotic protein and member of the Bcl-2 protein family that is regulated by PHOSPHORYLATION. Unphosphorylated Bad protein inhibits the activity of BCL-XL PROTEIN.
] |
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bcl-X Protein
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D051020 |
[Bcl-XL is an anti-apoptotic protein that is the long isoform of Bcl-X protein. Bcl-XL localizes to the outer mitochondrial membrane and is overexpressed in most human NEOPLASMS. It has also been implicated in ISCHEMIC HEART DISEASE.
, A pro-apoptotic protein that is the short isoform of Bcl-X protein. Bcl-XS lacks the BH1 and BH2 domains of BCL-XL PROTEIN and it inhibits the ANTI-APOPTOTIC PROTEINS of the bcl-2 protein family.
, A member of the bcl-2 protein family that plays a role in the regulation of APOPTOSIS and is a regulatory subunit for PROTEIN PHOSPHATASE 1. Two major isoforms of the protein exist due to ALTERNATIVE SPLICING of the BCL2L1 mRNA and are referred to as Bcl-XS and Bcl-XL.
] |
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beta 2-Glycoprotein I
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D053482 |
[A 44-kDa highly glycosylated plasma protein that binds phospholipids including CARDIOLIPIN; APOLIPOPROTEIN E RECEPTOR; membrane phospholipids, and other anionic phospholipid-containing moieties. It plays a role in coagulation and apoptotic processes. Formerly known as apolipoprotein H, it is an autoantigen in patients with ANTIPHOSPHOLIPID ANTIBODIES.
] |
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beta 2-Microglobulin
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D001613 |
[An 11-kDa protein associated with the outer membrane of many cells including LYMPHOCYTES. It is the small subunit of MHC CLASS I MOLECULES. Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. Beta 2-microglobulin is present in small amounts in serum, CEREBROSPINAL FLUID, and urine of healthy individuals, and to a much greater degree in the urine and plasma of patients with tubular PROTEINURIA, renal failure, or kidney transplants.
] |
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beta Carotene
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D019207 |
[A carotenoid that is a precursor of VITAMIN A. Beta carotene is administered to reduce the severity of photosensitivity reactions in patients with erythropoietic protoporphyria (PORPHYRIA, ERYTHROPOIETIC).
] |
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beta Catenin
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D051176 |
[A multi-functional catenin that participates in CELL ADHESION and nuclear signaling. Beta catenin binds CADHERINS and helps link their cytoplasmic tails to the ACTIN in the CYTOSKELETON via ALPHA CATENIN. It also serves as a transcriptional co-activator and downstream component of WNT PROTEIN-mediated SIGNAL TRANSDUCTION PATHWAYS.
] |
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beta Karyopherins
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D028961 |
[Nucleocytoplasmic transport molecules that bind to ALPHA KARYOPHERINS in the CYTOSOL and are involved in transport of molecules through the NUCLEAR PORE COMPLEX. Once inside the CELL NUCLEUS beta karyopherins interact with RAN GTP-BINDING PROTEIN and dissociate from alpha karyopherins. Beta karyopherins bound to RAN GTP-BINDING PROTEIN are then re-transported to the cytoplasm where hydrolysis of the GTP of RAN GTP-BINDING PROTEIN causes release of karyopherin beta.
] |
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beta-Adrenergic Receptor Kinases
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D051552 |
[G-protein-coupled receptor kinases that mediate agonist-dependent PHOSPHORYLATION and desensitization of BETA-ADRENERGIC RECEPTORS.
] |
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beta-Alanine
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D015091 |
[An amino acid formed in vivo by the degradation of dihydrouracil and carnosine. Since neuronal uptake and neuronal receptor sensitivity to beta-alanine have been demonstrated, the compound may be a false transmitter replacing GAMMA-AMINOBUTYRIC ACID. A rare genetic disorder, hyper-beta-alaninemia, has been reported.
] |
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beta-Alanine-Pyruvate Transaminase
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D051278 |
[A PYRIDOXAL PHOSPHATE containing enzyme that catalyzes the transfer of an amino group from L-ALANINE to 3-oxopropanoate to generate PYRUVATE and BETA-ALANINE.
] |
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beta-Aminoethyl Isothiourea
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D000338 |
[A radiation-protective agent that can inhibit DNA damage by binding to the DNA. It also increases the susceptibility of blood cells to complement-mediated lysis.
, Tradename for beta-Aminoethylisothiuronium Bromide
] |