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List Of Disabled Human Pseudogenes
This is a list of human pseudogenes that are known to be disabled genes. * WNT3A pseudogene, associated with the growth of a tail * NCF1C pseudogene, associated with a type of white blood cell. It makes part of the neutrophil NADPH oxidase enzyme, which makes superoxide anion. * GULO pseudogene, associated with the production of Vitamin C * IRGM pseudogene, associated with the immune system * hHaA pseudogene, associated with fur-like body hair: see hypertrichosis * DEFT1P pseudogene, associated with the immune system * Urate oxidase pseudogene, associated with the processing of uric acid * Photolyase pseudogene, associated with repairing DNA damaged by UV radiation ** Photolyase is no longer encoded for despite obvious advantages. Instead, this gene is mutated to encode for cryptochromes. References {{DEFAULTSORT:Disabled human pseudogenes Pseudo The prefix pseudo- (from Greek ψευδής, ''pseudes'', "false") is used to mark something that superficially appears t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudogene
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA transcript. Pseudogenes are usually identified when genome sequence analysis finds gene-like sequences that lack regulatory sequences needed for Transcription (biology), transcription or Translation (biology), translation, or whose coding sequences are obviously defective due to Frameshift mutation, frameshifts or premature stop codons. Most non-bacterial genomes contain many pseudogenes, often as many as functional genes. This is not surprising, since various biological processes are expected to accidentally create pseudogenes, and there are no specialized mechanisms to remove them from genomes. Eventually pseudogenes may be deleted from their genomes by chance DNA replication or DNA repair errors, or they may accumulate so many mutational cha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WNT3A
Protein Wnt-3a is a protein that in humans is encoded by the ''WNT3A'' gene. The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have are critical in tissue homeostasis, embryonic development, and disease. Signaling and Related Genes WNT3A is highly related to the WNT3 gene in sequence and protein function. WNT3A and WNT3 signal similarly through primarily the beta-catenin/Tcf pathway. WNT3A is located in the genome beside the WNT9A gene across many vertebrates. Similarly, the WNT3 gene occurs in the genome beside the WNT9B gene. WNT9A and WNT9B signal through the beta-catenin/Tcf pathway but do not play related roles as WNT3A and WNT3 in the same cellular processes. Role in Disease WNT3A is not linked to particular genetic disorder in humans. Mice that have a genetic mutation in the WNT3A die during early embryogenesis and fail to correctly form axial tissues. Wnt-3a promotes the beta-catenin/Tcf pathway whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NCF1C
Putative neutrophil cytosol factor 1C is a protein that in humans is encoded by the ''NCF1C'' gene. It relates to a type of white blood cell called a neutrophil. The Neutrophil Cytosolic Factor 1C (NCF1C) gene is responsible for encoding the 47 kDA cytosolic subunit of NADPH oxidase. The NCF1C gene is located near two pseudogenes and when the NCF1C gene recombines with them, the NCF1C gene will inactivate and can lead to chronic granulomatous disease Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reacti .... References Further reading * * Human proteins {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neutrophil
Neutrophils (also known as neutrocytes or heterophils) are the most abundant type of granulocytes and make up 40% to 70% of all white blood cells in humans. They form an essential part of the innate immune system, with their functions varying in different animals. They are formed from stem cells in the bone marrow and Cellular differentiation, differentiated into #Subpopulations, subpopulations of neutrophil-killers and neutrophil-cagers. They are short-lived and highly mobile, as they can enter parts of tissue where other cells/molecules cannot. Neutrophils may be subdivided into segmented neutrophils and banded neutrophils (or Band cell, bands). They form part of the polymorphonuclear cells family (PMNs) together with basophils and eosinophils. The name ''neutrophil'' derives from staining characteristics on hematoxylin and eosin (H&E stain, H&E) histology, histological or cell biology, cytological preparations. Whereas basophilic white blood cells stain dark blue and eosinoph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NADPH
Nicotinamide adenine dinucleotide phosphate, abbreviated NADP or, in older notation, TPN (triphosphopyridine nucleotide), is a cofactor used in anabolic reactions, such as the Calvin cycle and lipid and nucleic acid syntheses, which require NADPH as a reducing agent ('hydrogen source'). It is used by all forms of cellular life. NADPH is the reduced form of NADP. NADP differs from NAD by the presence of an additional phosphate group on the 2' position of the ribose ring that carries the adenine moiety. This extra phosphate is added by NAD+ kinase and removed by NADP+ phosphatase. Biosynthesis NADP In general, NADP+ is synthesized before NADPH is. Such a reaction usually starts with NAD+ from either the de-novo or the salvage pathway, with NAD+ kinase adding the extra phosphate group. ADP-ribosyl cyclase allows for synthesis from nicotinamide in the salvage pathway, and NADP+ phosphatase can convert NADPH back to NADH to maintain a balance. Some forms of the NAD+ kinas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Superoxide
In chemistry, a superoxide is a compound that contains the superoxide ion, which has the chemical formula . The systematic name of the anion is dioxide(1−). The reactive oxygen ion superoxide is particularly important as the product of the one-electron reduction of dioxygen , which occurs widely in nature. Molecular oxygen (dioxygen) is a diradical containing two unpaired electrons, and superoxide results from the addition of an electron which fills one of the two degenerate molecular orbitals, leaving a charged ionic species with a single unpaired electron and a net negative charge of −1. Both dioxygen and the superoxide anion are free radicals that exhibit paramagnetism. Superoxide was historically also known as "hyperoxide". Salts Superoxide forms salts with alkali metals and alkaline earth metals. The salts caesium superoxide (), rubidium superoxide (), potassium superoxide (), and sodium superoxide () are prepared by the reaction of with the respective alkali me ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
L-gulonolactone Oxidase
L-Gulonolactone oxidase ( ECbr>1.1.3.8 is an enzyme that produces vitamin C, but is non-functional in Haplorrhini (including humans), in some bats, and in guinea pigs. It catalyzes the reaction of L-gulono-1,4-lactone with oxygen to form L-xylo-hex-3-gulonolactone (2-keto-gulono-γ-lactone) and hydrogen peroxide. It uses FAD as a cofactor. The L-xylo-hex-3-gulonolactone then converts to hexuronic acid ( ascorbic acid) spontaneously, without enzymatic action. Gulonolactone oxidase deficiency The non-functional gulonolactone oxidase pseudogene (''GULOP'') was mapped to human chromosome 8p21, which corresponds to an evolutionarily conserved segment on either porcine chromosome 4 (SSC4) or 14 (SSC14). GULO produces the precursor to ascorbic acid, which spontaneously converts to the vitamin itself. The loss of activity of the gene encoding L-gulonolactone oxidase (GULO) has occurred separately in the history of several species. GULO activity has been lost in some species of bats ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IRGM
Immunity-related GTPase family M protein (IRGM), also known as interferon-inducible protein 1 (IFI1), is an enzyme that in humans is ''IRGM'' gene. IRGM is a member of the interferon-inducible GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. The gene has been disabled by an Alu element for at least 25 million years in the primate lineage leading to great apes including humans, but it was re-enabled by an endogenous retrovirus called ERV-9. Clinical relevance Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis Tuberculosis (TB) is an infectious disease usually caused by '' Mycobacterium tuberculosis'' (MTB) bacteria. Tuberculosis generally affects the lungs, but it can also affect other parts of the body. Most infections show no symptoms, in .... References Further reading ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HHaA
KRT41P, formerly KRTHAP1 (also known as ΨhHaA, ''h'' prefix for "human") is a human pseudogene that used to code for a keratin. It is believed to be responsible for fur-like body hair Body hair, or androgenic hair, is the terminal hair that develops on the human body during and after puberty. It is differentiated from the head hair and less visible vellus hair, which is much finer and lighter in color. The growth of androge .... There is still variation in the degree of body hair among human beings and occasional examples have been found of people where the gene is active leading to very thick body hair as a result. Although the mutation was dated to 240 000 by Winter et al., it is also present in the Vindija Neandertal and Altai Denisovan sequences. Hence the dating must be older than 700 00 kya and possibly more than 1 mya considering the latter's divergence date. Given the divergence of pubic and head hair lice, the date of the mutation may be as old as 3.3 million years o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertrichosis
Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital (present at birth) or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions. Several circus sideshow performers in the 19th and early 20th centuries, such as Julia Pastrana, had hypertrichosis. Many of them worked as freaks and were promoted as having distinct human and animal traits. Classification Two methods of classification are used for hypertrichosis. One divides them into either generalized versus localized hypertrichosis, while the other divides them into congenital versus acquired. Congenital Congenital forms of hypertrichosis are caused by genetic mutations, and are ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Theta Defensin
Theta-defensins (θ-defensins, retrocyclins, or demidefensins) are a family of mammalian antimicrobial peptides. They are found in non-human ' Old World' primates, but not in human, gorilla, bonobo, and chimpanzee. Structure θ-defensins are cyclic peptides of 18 amino acids (~2 kDa), possessing antimicrobial activity against a range of Gram-positive and Gram-negative bacteria, fungi, and some retroviruses. They consist of a pair of antiparallel β-sheets linked by three disulfide bonds arranged as a ladder along the sheets to form an extremely stable structure. Additionally, the peptides may self-associate into trimers. Biosynthesis In rhesus macaque (''Macaca mulatta'') and olive baboon (''Papio anubis''), θ-defensins are produced from precursor proteins with 76 amino acids each. A single nine amino acid peptide is derived from each precursor. Two of these nine amino acid peptides are spliced together to form the circular 18 amino acid defensin. Since there are two ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urate Oxidase
The enzyme urate oxidase (UO), uricase or factor-independent urate hydroxylase, absent in humans, catalyzes the oxidation of uric acid to 5-hydroxyisourate: :Uric acid + O2 + H2O → 5-hydroxyisourate + H2O2 : 5-hydroxyisourate + H2O → allantoin + CO2 Image:Uric acid.png, Uric acid Image:5-Hydroxyisourate.svg, 5-Hydroxyisourate Image:Allantoin.svg, Allantoin Structure Urate oxidase is mainly localised in the liver, where it forms a large electron-dense paracrystalline core in many peroxisomes. The enzyme exists as a tetramer of identical subunits, each containing a possible type 2 copper-binding site. Urate oxidase is a homotetrameric enzyme containing four identical active sites situated at the interfaces between its four subunits. UO from '' A. flavus'' is made up of 301 residues and has a molecular weight of 33438 daltons. It is unique among the oxidases in that it does not require a metal atom or an organic co-factor for catalysis. Sequence analysis of severa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
