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POLR3GL
Polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like also known as POLR3GL is a protein which in humans is encoded by the ''POLR3GL'' gene. Related gene problems * TAR syndrome *1q21.1 deletion syndrome *1q21.1 duplication syndrome 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosome ... References {{genetics-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TAR Syndrome
TAR syndrome ( thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. Signs and symptoms * Presents with symptoms of thrombocytopenia, or a lowered platelet count, leading to bruising and potentially life-threatening hemorrhage. * Absence of the radius bone in the forearm with preservation of the thumb. Other common links between people with TAR syndrome include anemia, heart problems, kidney problems, knee joint problems, and frequently milk allergy. Different cases with leukemia in patients with TAR are described in. Genetics This condition requires mutations in both chromosomes.Brodie SA, Rodriguez-Aulet JP, Giri N, Dai J, Steinberg M, Waterfall JP, Roberson D, Ballew BJ, Zhou W, Anzick SL, Jiang Y, Wang Y, Zhu YJ, Meltzer PS, Boland J, Alter BP, Savage SA (2019) 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
