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KRT17
Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the ''KRT17'' gene. Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene encoding this protein lead to PC-K17 (previously known as Jackson-Lawler) type pachyonychia congenita and steatocystoma multiplex. Interactions Keratin 17 has been shown to interact with CCDC85B Coiled-coil domain-containing protein 85B is a protein that in humans is encoded by the ''CCDC85B'' gene. Function Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. .... References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita Keratins {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pachyonychia Congenita
Pachyonychia congenita (often abbreviated as "PC") is a rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes. Pachyonychia congenita is often associated with thickened toenails, plantar keratoderma, and plantar pain. Signs and symptoms Pachyonychia congenita is characterized by a clinical triad present in 97% of people with PC by the time they turn 10 years old: # Thickened toenails # Plantar keratoderma # Plantar pain that may require some patients to use wheelchairs, canes, crutches, and pain medications due to its severity Other signs and symptoms found in PC include: * Thickened fingernails * Palmar keratoderma * Oral leukokeratosis * Cysts, including steatocystoma multiplex * Follicular hyperkeratosis * Natal or prenatal teeth * Blisters * Excessive sweating of the palms and soles * Excess earwax production * Ear pain * Hoarseness * Angular chelitis * Fingernail and toenail infections Cause The conditi ... [...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 ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Type I Cytokeratin
Type I keratins (or Type I cytokeratins) are cytokeratins that constitute the Type I intermediate filaments (IFs) of the intracytoplasmatic cytoskeleton, which is present in all mammalian epithelial cells. Most of the type I keratins consist of acidic, low molecular weight proteins which in vivo are arranged in pairs of heterotypic Type I and Type II keratin chains, coexpressed during differentiation of simple and stratified epithelial tissues. Type I keratins are encoded on chromosome 17q and encompasses: K9, K10, K11, K12, K13, K14, K15, K16, K17, K18, K19 and K20. Their molecular weight ranges from 40 kDa (K19) to 64 kDa (K9). See also *Type II keratin Type II keratins (or Type II cytokeratins) constitutes the Type II intermediate filaments (IFs) of the intracytoplasmatic cytoskeleton, which is present in all mammalian epithelial cells. The type 2 cytokeratins consist of basic or neutral, high mol ... External links * Proteopedia page on keratins Keratins {{Fibrous prot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nail (anatomy)
A nail is a claw-like plate found at the tip of the fingers and toes on most primates. Nails correspond to the claws found in other animals. Fingernails and toenails are made of a tough protective protein called alpha-keratin, which is a polymer. Alpha-keratin is found in the hooves, claws, and horns of vertebrates. Structure The nail consists of the nail plate, the nail matrix and the nail bed below it, and the grooves surrounding it. Parts of the nail The matrix, sometimes called the ''matrix unguis'', keratogenous membrane, nail matrix, or onychostroma, is the active tissue (or germinal matrix) that generates cells, which harden as they move outward from the nail root to the nail plate. It is the part of the nail bed that is beneath the nail and contains nerves, lymph and blood vessels. The matrix produces cells that become the nail plate. The width and thickness of the nail plate is determined by the size, length, and thickness of the matrix, while the shape of the fing ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hair Follicle
The hair follicle is an organ found in mammalian skin. It resides in the dermal layer of the skin and is made up of 20 different cell types, each with distinct functions. The hair follicle regulates hair growth via a complex interaction between hormones, neuropeptides, and immune cells. This complex interaction induces the hair follicle to produce different types of hair as seen on different parts of the body. For example, terminal hairs grow on the scalp and lanugo hairs are seen covering the bodies of fetuses in the uterus and in some newborn babies. The process of hair growth occurs in distinct sequential stages. The first stage is called ''anagen'' and is the active growth phase, ''telogen'' is the resting stage, ''catagen'' is the regression of the hair follicle phase, ''exogen'' is the active shedding of hair phase and lastly ''kenogen'' is the phase between the empty hair follicle and the growth of new hair. The function of hair in humans has long been a subject of int ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sebaceous Gland
A sebaceous gland is a microscopic exocrine gland in the skin that opens into a hair follicle to secrete an oily or waxy matter, called sebum, which lubricates the hair and skin of mammals. In humans, sebaceous glands occur in the greatest number on the face and scalp, but also on all parts of the skin except the palms of the hands and soles of the feet. In the eyelids, meibomian glands, also called tarsal glands, are a type of sebaceous gland that secrete a special type of sebum into tears. Surrounding the female nipple, areolar glands are specialized sebaceous glands for lubricating the nipple. Fordyce spots are benign, visible, sebaceous glands found usually on the lips, gums and inner cheeks, and genitals. Structure Location Sebaceous glands are found throughout all areas of the skin, except the palms of the hands and soles of the feet. There are two types of sebaceous glands, those connected to hair follicles and those that exist independently. Sebaceous glands ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Steatocystoma Multiplex
Steatocystoma multiplex, is a benign, autosomal dominant congenital condition resulting in multiple cysts on a person's body. Steatocystoma simplex is the solitary counterpart to steatocystoma multiplex. In steatocystoma multiplex, the tendency to develop cysts is inherited in an autosomal dominant fashion, so one parent can be expected to also have steatocystoma multiplex. It may also occur sporadically. Both males and females may be affected. The onset at puberty is presumably due to hormonal stimulus of the pilosebaceous unit. They most often arise on the chest and may also occur on the abdomen, upper arms, armpits and face. In some cases cysts may develop all over the body. The cysts are mostly small (2–20 mm) but they may be several centimetres in diameter. They tend to be soft to firm semi-translucent bumps, and contain an oily, yellow liquid. Sometimes a small central punctum can be identified and they may contain one or more hairs (eruptive vellus hair cysts). They may b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CCDC85B
Coiled-coil domain-containing protein 85B is a protein that in humans is encoded by the ''CCDC85B'' gene. Function Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication ''in vitro''. Interactions CCDC85B has been shown to interact with: * C19orf25, * KIAA1267, * Keratin 17, and * Protein kinase N1 Serine/threonine-protein kinase N1 is an enzyme that in humans is encoded by the ''PKN1'' gene. Function The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins a .... References External links * Further reading * * * * * * {{gene-11-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nature (journal)
''Nature'' is a British weekly scientific journal founded and based in London, England. As a multidisciplinary publication, ''Nature'' features peer-reviewed research from a variety of academic disciplines, mainly in science and technology. It has core editorial offices across the United States, continental Europe, and Asia under the international scientific publishing company Springer Nature. ''Nature'' was one of the world's most cited scientific journals by the Science Edition of the 2019 '' Journal Citation Reports'' (with an ascribed impact factor of 42.778), making it one of the world's most-read and most prestigious academic journals. , it claimed an online readership of about three million unique readers per month. Founded in autumn 1869, ''Nature'' was first circulated by Norman Lockyer and Alexander Macmillan as a public forum for scientific innovations. The mid-20th century facilitated an editorial expansion for the journal; ''Nature'' redoubled its efforts in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
