Chromosome 11 is one of the 23 pairs of chromosomes in humans. A chromosome is an organized structure of DNA and Protein that is found in cells. Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus People normally have two copies of this chromosome. Chromosome 11 spans about 134. 5 million base pairs (the building material of DNA) and represents between 4 and 4. In Molecular biology, two Nucleotides on opposite complementary DNA or RNA strands that are connected via Hydrogen bonds are called Deoxyribonucleic acid ( DNA) is a Nucleic acid that contains the genetic instructions used in the development and functioning of all known 5 percent of the total DNA in cells. The cell is the structural and functional unit of all known living Organisms It is the smallest unit of an organism that is classified as living and is often called It is one of the most gene- and disease-rich chromosomes in the human genome. The human genome is the Genome of Homo sapiens, which is stored on 23 chromosome pairs
Identifying genes on each chromosome is an active area of genetic research. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 11 likely contains between 1,300 and 1,700 genes.
A recent study  shows that 11. 6 genes per megabase, including 1,524 protein-coding genes and 765 pseudogenes can be found on chromosome 11. Pseudogenes are defunct relatives of known Genes that have lost their Protein -coding ability or are otherwise no longer expressed
More than 40% of the 856 olfactory receptor genes in the human genome are located in 28 single- and multi-gene clusters along this chromosome. Olfactory receptors expressed in the Cell membranes of Olfactory receptor neurons are responsible for the detection of Odor molecules
The following are some of the genes located on chromosome 11:
- ACAT1: acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
- ATM: ataxia telangiectasia mutated (includes complementation groups A, C and D)
- CPT1A: carnitine palmitoyltransferase 1A (liver)
- DHCR7: 7-dehydrocholesterol reductase
- HBB: hemoglobin, beta
- HMBS: hydroxymethylbilane VIIA
- PTS: 6-pyruvoyltetrahydropterin synthase
- SAA1: serum amyloid A1
- SBF2: SET binding factor 2
- SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
- TECTA: tectorin alpha (nonsyndromic deafness)
- TH: tyrosine hydroxylase
- USH1C: Usher syndrome 1C (autosomal recessive, severe)
Diseases & disorders
The following diseases are some of those related to genes on chromosome 11:
- ^ Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y (2006). Acetyl-Coenzyme A acetyltransferase (or thiolase) is an enzyme which converts two units of Acetyl-CoA to Acetoacetyl CoA in the Mevalonate pathway Ataxia telangiectasia mutated (ATM is a Serine / Threonine -specific Protein kinase ( that is recruited and activated by DNA double-strand breaks Carnitine palmitoyltransferase I ( CPT1)is a mitochondrial enzyme 7-dehydrocholesterol reductase, also known as DHCR7, is a human Gene. Porphobilinogen deaminase (or hydroxymethylbilane synthase) is an Enzyme involved in the third step of the metabolism of Porphyrin, converting Paired box gene 6 (aniridia keratitis, also known as PAX6, is a Gene in humans and other animals 6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human Gene. Serum amyloid A1, also known as SAA1, is a human Gene. SET binding factor 2, also known as SBF2, is a human Gene. Sphingomyelin phosphodiesterase 1 acid lysosomal (acid sphingomyelinase, also known as SMPD1, is a human Sphingomyelin phosphodiesterase. Tectorin alpha, also known as TECTA, is a human Gene. Tyrosine hydroxylase or tyrosine 3-monooxygenase is the Enzyme responsible for catalyzing the conversion of the Amino acid L-tyrosine to Usher syndrome 1C (autosomal recessive severe, also known as USH1C, is a human Gene. Language development. The terminology Aniridia is a rare Congenital condition characterized by the underdevelopment of the Eye 's iris. Acute intermittent porphyria ( AIP) is a rare Autosomal dominant metabolic disorder affecting the production of Heme, the oxygen-binding Ataxia-telangiectasia (AT ( Boder-Sedgwick syndrome or Louis-Bar syndrome) is a rare neurodegerative inherited disease which affects many parts of the body Beckwith-Wiedemann syndrome (BWS is an overgrowth disorder present at birth characterized by an increased risk of childhood cancer and certain features Beta-ketothiolase deficiency is a rare Autosomal recessive Metabolic disorder in which the body cannot properly process the Amino acid Thalassemia (from Greek θαλασσα thalassa sea + αίμα haima blood British spelling "thalassaemia" is an inherited Autosomal recessive Bladder cancer refers to any of several types of malignant growths of the Urinary bladder. Breast cancer is a Cancer that starts in the cells of the Breast in women and men Carnitine palmitoyltransferase I deficiency is a rare Metabolic disorder that prevents the body from converting certain fats called long-chain Fatty Charcot-Marie-Tooth disease ( CMT) known also as Hereditary Motor and Sensory Neuropathy ( HMSN) Hereditary Sensorimotor Neuropathy ( HSMN Charcot-Marie-Tooth disease ( CMT) known also as Hereditary Motor and Sensory Neuropathy ( HMSN) Hereditary Sensorimotor Neuropathy ( HSMN Denys-Drash syndrome is a Syndrome characterized by the following conditions Gonadal dysgenesis Nephropathy Familial Mediterranean fever (FMF is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence Angioedema ( BE: angiooedema) also known by its Eponym Quincke's edema, is the rapid swelling ( Edema) of the Dermis Jacobsen Syndrome, also known as 11q deletion, is a rare Congenital disorder resulting from deletion of a terminal region of Chromosome 11 that includes Jervell and Lange-Nielsen syndrome, a type of Long QT syndrome, causes the Cardiac muscle to take longer than usual to recharge between beats Meckel syndrome (also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a Rare, lethal, Multiple endocrine neoplasia type 1 or Werner syndrome is part of a group of disorders that affect the Endocrine system. Hereditary multiple exostoses ( HME) is a rare medical condition in which multiple bony spurs or lumps (also known as exostoses, or Osteochondromas develop Niemann-Pick Disease is one of a group of Lysosome storage diseases that affect Metabolism and that are caused by genetic mutations Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms Porphyrias are a group of inherited or acquired disorders of certain Enzymes in the Heme biosynthetic pathway (also called Porphyrin pathway Romano-Ward syndrome, is the major variant of long QT syndrome. Sickle-cell disease or sickle-cell anaemia (or anemia) is a Blood disorder characterized by Red blood cells that assume an abnormal rigid Smith-Lemli-Opitz syndrome (also SLOS, or 7-dehydrocholesterol reductase deficiency) is a metabolic and developmental disorder that affects many Tetrahydrobiopterin deficiency (also known as BH4 deficiency) is a rare disorder that increases the blood levels of Phenylalanine. A leading cause of Deafblindness, Usher syndrome (sometimes referred to as " Usher's syndrome " is a relatively rare Genetic disorder that WAGR syndrome is a rare genetic Syndrome in which affected children are predisposed to develop '''W'''ilms tumor (a tumor of the Kidneys, '''A'''niridia "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature 440 (7083): 497–500. doi:10.1038/nature04632. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 16554811.
- Gilbert F (2000). "Disease genes and chromosomes: disease maps of the human genome". Genet Test 4 (4): 409–26. doi:10.1089/109065700750065180. A digital object identifier ( DOI) is a permanent identifier given to an Electronic document. PMID 11216668.
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