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DMXL2
Dmx-like 2 is a protein that in humans is encoded by the DMXL2 gene. Function This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human celines. A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. Clinical relevance Haplosufficiency of Dmxl2 has been identified as the cause of Polyendocrine-polyneuropathy syndro and delayed puberty. Research has indicated that this is a result of altered function of CNS synapses (in which the protein product of Dmxl2 is expressed) causing altered activation of the GnRH neurons of the hypothalamus. See also * DmX gene - the homolog in ''D. melanogaster ''Drosophila melanogaster'' is a species of fly (the tax ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DmX Gene
Rabconnectin-3A (''Rbcn-3A'') or DmX (''Drosophila melanogaster'' X-gene) is a gene located on the X chromosome in ''Drosophila'' and encodes for the relatively large WD-repeat protein, rabconnectin-3A.Kraemer, Christiane; Weil, Bernd; Christmann, Markus; Schmidt, Erwin R. (1998-08-31)"The new gene DmX from Drosophila melanogaster encodes a novel WD-repeat protein" ''Gene'' 216 (2): 267-276. https://doi.org/10.1016/S0378-1119(98)00347-3 Rabconnectin-3A is involved in Notch signalling by regulating the vacuolar proton pump V-ATPase. ''DmX'' is a highly conserved gene and is widely found in insects and mammals. Two orthologs of ''DmX'' exist in humans, '' DMXL1'' and ''DMXL2'', the latter of which codes for the synaptic protein rabconnectin-3α. Its name comes from the fact that it binds the Ras-related protein Rab3 (human RAB3A). Discovery The discovery of ''DmX'' was published in the journal ''Gene'' in 1998. It was discovered using a comparative genomics approach that found sequ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WD40 Repeat
The WD40 repeat (also known as the WD or beta-transducin repeat) is a short structural motif of approximately 40 amino acids, often terminating in a tryptophan-aspartic acid (W-D) dipeptide. Tandem copies of these repeats typically fold together to form a type of circular solenoid protein domain called the WD40 domain. Structure WD40 domain-containing proteins have 4 to 16 repeating units, all of which are thought to form a circularised beta-propeller structure (see figure to the right). The WD40 domain is composed of several repeats, a variable region of around 20 residues at the beginning followed by a more common repeated set of residues. These repeats typically form a four stranded anti-parallel beta sheet or blade. These blades come together to form a propeller with the most common being a 7 bladed beta propeller. The blades interlock so that the last beta strand of one repeat forms with the first three of the next repeat to form the 3D blade structure. Function WD40-re ... [...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 resid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haplosufficiency
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a ''de novo'' or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles. In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
