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29 relations: Angelman syndrome, Base pair, Cell (biology), Chromosomal translocation, Chromosome 15, Enzyme, Gene, Genomic imprinting, Lck, Long non-coding RNA, MCM7, MECP2, Mutation, Neuroglia, Neuron, Prader–Willi syndrome, Progesterone receptor, Proteasome, Protein, Protein–protein interaction, TSC2, Tyrosine-protein kinase BLK, UBE2D1, UBE2D2, UBE2L3, Ube3a-ATS, Ubiquitin, UBQLN1, UBQLN2.
Angelman syndrome
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.
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Base pair
A base pair (bp) is a unit consisting of two nucleobases bound to each other by hydrogen bonds.
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Cell (biology)
The cell (from Latin cella, meaning "small room") is the basic structural, functional, and biological unit of all known living organisms.
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Chromosomal translocation
In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
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Chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans.
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Enzyme
Enzymes are macromolecular biological catalysts.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Genomic imprinting
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.
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Lck
Lck (or lymphocyte-specific protein tyrosine kinase) is a 56 kDa protein that is found inside specialized cells of the immune system called lymphocytes.
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Long non-coding RNA
Long non-coding RNAs (long ncRNAs, lncRNA) are defined as transcripts longer than 200 nucleotides that are not translated into protein.
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MCM7
DNA replication licensing factor MCM7 is a protein that in humans is encoded by the MCM7 gene.
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MECP2
MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that encodes the protein MECP2.
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Mutation
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
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Neuroglia
Neuroglia, also called glial cells or simply glia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Prader–Willi syndrome
Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes.
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Progesterone receptor
The progesterone receptor (PR), also known as NR3C3 or nuclear receptor subfamily 3, group C, member 3, is a protein found inside cells.
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Proteasome
Proteasomes are protein complexes which degrade unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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Protein–protein interaction
Protein–protein interactions (PPIs) are the physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by electrostatic forces including the hydrophobic effect.
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TSC2
Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.
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Tyrosine-protein kinase BLK
Tyrosine-protein kinase BLK also known as B lymphocyte kinase is an enzyme that in humans is encoded by the BLK gene.
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UBE2D1
Ubiquitin-conjugating enzyme E2 D1 is a protein that in humans is encoded by the UBE2D1 gene.
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UBE2D2
Ubiquitin-conjugating enzyme E2 D2 is a protein that in humans is encoded by the UBE2D2 gene.
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UBE2L3
Ubiquitin-conjugating enzyme E2 L3 (UBE2L3), also called UBCH7, is a protein that in humans is encoded by the UBE2L3 gene.
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Ube3a-ATS
UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of a larger transcript called LNCAT (large non-coding antisense transcript) at the Ube3a locus.
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Ubiquitin
Ubiquitin is a small (8.5 kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e. it occurs ''ubiquitously''.
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UBQLN1
Ubiquilin-1 is a protein that in humans is encoded by the UBQLN1 gene.
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UBQLN2
Ubiquilin-2 is a protein that in humans is encoded by the UBQLN2 gene.
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E6-AP, E6AP, UBE3A (gene), Ubiquitin protein ligase E3A.
References
[1] https://en.wikipedia.org/wiki/UBE3A
