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OCA2
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (''OCA2'') gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine—a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The human OCA2 gene is located on the long arm (q) of chromosome 15, specifically from base pair 28,000,020 to base pair 28,344,457 on chromosome 15. Function OCA2 provides instructions for making the protein called P protein which is located in melanocytes which are specialized cells that produce melanin, and in the cells of the retinal pigment epithelium. Melanin is responsible for giving color to the skin, hair, and eyes. Moreover, melanin is found in the light-sensitive tissue of the retina of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eye Color
Eye color is a polygene, polygenic phenotypic trait determined by two factors: the pigmentation of the eye's Iris (anatomy), iris and the frequency-dependence of the scattering of light by the Turbidity, turbid medium in the Stroma of iris, stroma of the iris. In humans, the pigmentation of the Iris (anatomy), iris varies from light brown to black, depending on the concentration of melanin in the iris pigment epithelium (located on the back of the iris), the melanin content within the iris stroma (located at the front of the iris), and the cellular density of the stroma. The appearance of blue, green, and hazel eyes results from the Tyndall effect, Tyndall scattering of light in the stroma, a phenomenon similar to Rayleigh scattering which accounts for the blue sky. Neither blue nor green pigments are present in the human iris or vitreous humour. This is an example of structural color, which depends on the lighting conditions, especially for lighter-colored eyes. The brightly c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Color
Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is largely the result of genetics (inherited from one's biological parents), and in adults in particular, due to exposure to the sun, disorders, or some combination thereof. Differences across populations evolved through natural selection and sexual selection, because of social norms and differences in environment, as well as regulation of the biochemical effects of ultraviolet radiation penetrating the skin. Human skin color is influenced greatly by the amount of the pigment melanin present. Melanin is produced within the skin in cells called melanocytes; it is the main determinant of the skin color of darker-skin humans. The skin color of people with light skin is determined mainly by the bluish-white connective tissue under the dermis and by the hemoglobin circulating in the veins of the dermis. The red color underlyi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HERC2
HERC2, or HECT and RLD domain containing E3 ubiquitin protein ligase 2, is a giant Ubiquitin ligase, E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) Protein domain, domains. History HERC2, previously referred to as the ''rjs'' gene locus, was first identified in 1990 as the gene responsible for two phenotypes in mice: the runty, jerky, sterile (rjs) phenotype and the juvenile development and fertility-2 (Jdf2) phenotype. Mutant alleles are known to cause hypo-pigmentation and pink eye phenotypes, as well reduced growth, jerky gait, male sterility, female semi-sterility, and maternal behaviour defects in mice. Gene locus The full ''HERC2'' gene is located at 15q13, encoded by 93 exons and its transcription is under the control of a CpG site, C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculocutaneous Albinism
Oculocutaneous albinism is a form of Albinism in humans, albinism involving the human eye, eyes (''wikt:oculo-#Prefix, oculo-''), the human skin, skin (''-wikt:cutaneous#Adjective, cutaneous''), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the biosynthesis, synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. Types The following types of oculocutaneous albinism have been identified in humans. See also * Piebaldism * List of skin conditions * List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer References External links Oculocutaneous albinism informationat RareDiseases.org NCBI Genetic Testing Registry {{DEFAULTSORT:Ocul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanin
Melanin (; ) is a family of biomolecules organized as oligomers or polymers, which among other functions provide the pigments of many organisms. Melanin pigments are produced in a specialized group of cells known as melanocytes. There are five basic types of melanin: eumelanin, pheomelanin, neuromelanin, allomelanin and pyomelanin. Melanin is produced through a multistage chemical process known as melanogenesis, where the oxidation of the amino acid tyrosine is followed by polymerization. Pheomelanin is a cysteinated form containing poly benzothiazine portions that are largely responsible for the red or yellow tint given to some skin or hair colors. Neuromelanin is found in the brain. Research has been undertaken to investigate its efficacy in treating neurodegenerative disorders such as Parkinson's. Allomelanin and pyomelanin are two types of nitrogen-free melanin. The phenotypic color variation observed in the epidermis and hair of mammals is primarily determi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanocyte
Melanocytes are melanin-producing neural-crest, neural crest-derived cell (biology), cells located in the bottom layer (the stratum basale) of the skin's epidermis (skin), epidermis, the middle layer of the eye (the uvea), the inner ear, vaginal epithelium, meninges, bones, and heart found in many mammals and birds. Melanin is a dark pigment primarily responsible for skin color. Once synthesized, melanin is contained in special organelles called melanosomes which can be transported to nearby keratinocytes to induce pigmentation. Thus darker skin tones have more melanosomes present than lighter skin tones. Functionally, melanin serves as protection against Ultraviolet, UV radiation. Melanocytes also have a role in the immune system. Function Through a process called melanogenesis, melanocytes produce melanin, which is a pigment found in the human skin, skin, human eye, eyes, hair, nasal cavity, and inner ear. This melanogenesis leads to a long-lasting pigmentation, which i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Albinism
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. Individuals with the condition are referred to as albinos. Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify. Albinism can reduce the survivability of an animal; for example, it has been suggested that albino alligators have an average survival span of only 24 hours due to the lack of protection from UV radiation and their lack of camouflage to avoid predators. It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the Iris (anatomy), iris allowing the blood vessels of the retina to be visible); this is not the case for some forms of albinism. Familiar albino animals include in-bred strains of laboratory animals (rats, mice and rabbits), but populations of naturally occurring albino animals ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele
An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule. Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), but they can also have insertions and deletions of up to several thousand base pairs. Most alleles observed result in little or no change in the function or amount of the gene product(s) they code or regulate for. However, sometimes different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of a single gene with two alleles. Nearly all multicellular organisms have two sets of chromosomes at some point in their biological life cycle; that is, they are diploid. For a given locus, if the two chromosomes contain the same allele, they, and the organism, are homozygous with re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include hypotonia, weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and Behavioural problems, behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are Infertility, unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has Uniparental disomy, two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through Genomic imprinting, imprinting, they end up with no working copies of certain genes. ... [...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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
