IRF6 is a gene whose function is related to the formation of connective tissue, for example that of the palate. This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. Hugo is a masculine name. ... In biology and evolutionary computation, a locus is the position of a gene (or other significant sequence) on a chromosome. ... Chromosome 1 is, by convention, the designation for the largest human chromosome. ... An amino acid residue is what is left of an amino acid once a molecule of water has been lost (an H+ from the nitrogenous side and an OH- from the carboxylic side) in the formation of a peptide bond. ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ... The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Connective tissue is any type of biological tissue with an extensive extracellular matrix and often serves to support, bind together, and protect organs. ... The palate is the roof of the mouth in humans and vertebrate animals. ... Interferons (IFNs) are natural proteins produced by the cells of the immune systems of most animals in response to challenges by foreign agents such as viruses, bacteria, parasites and tumor cells. ... The N-terminal end refers to the extremity of a protein or polypeptide terminated by an amino acid with a free amine group (NH2). ... The λ repressor of bacteriophage lambda employs a helix-turn-helix to bind DNA. In proteins, the helix-turn-helix (HTH) is a major structural motif capable of binding DNA. It is composed of two α helices joined by a short strand of amino acids and is found in many... The general structure of a section of DNA Deoxyribonucleic acid (DNA) is a nucleic acid —usually in the form of a double helix— that contains the genetic instructions specifying the biological development of all cellular forms of life, and most viruses. ... The C-terminal end refers to the extremity of a protein or polypeptide terminated by an amino acid with a free carboxyl group (COOH). ... A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...

A mutation of the IRF6 gene can lead to popliteal pterygium syndrome or the related van der Woude syndrome. The phenotypic heterogeneity of these disorders is due to different types of IRF6 mutation. In biology, mutations are changes to the genetic material (usually DNA or RNA). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. ... Van Der Woude syndrome consists of the following characteristics: cleft lip and palate, missing teeth and lip pits. ... The phenotype of an individual organism is either its total physical appearance and constitution, or a specific manifestation of a trait, such as size or eye color, that varies between individuals. ... A heterogeneous compound, mixture, or other such object is one that consists of many different items. ... Disorder may refer to : A disease, in medicine Randomness (lack of order), in information theory This is a disambiguation page — a list of pages that otherwise might share the same title. ...