Chromosome 9 (human)
Encyclopedia
Chromosome 9 is one of the 23 pairs of chromosome
s in human
s. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 145 million base pair
s of nucleic acids (the building blocks of DNA
) and represents between 4 and 4.5 percent of the total DNA in cells
.
Identifying gene
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 9 likely contains between 800 and 1,200 genes.
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 145 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s of nucleic acids (the building blocks of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 4 and 4.5 percent of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 9 likely contains between 800 and 1,200 genes.
Genes
The following are some of the genes located on chromosome 9:- ABOABO blood group systemThe ABO blood group system is the most important blood type system in human blood transfusion. The associated anti-A antibodies and anti-B antibodies are usually IgM antibodies, which are usually produced in the first years of life by sensitization to environmental substances such as food,...
: ABO histo-blood group glycosyltransferases - ADAMTS13ADAMTS13ADAMTS13 —also known as von Willebrand factor-cleaving protease —is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor , a large protein involved in blood clotting...
: ADAM metallopeptidase with thrombospondin type 1 motif, 13 - ALADALADDelta-aminolevulinic acid dehydratase is an enzyme that in humans is encoded by the ALAD gene.-Further reading:...
: aminolevulinate, delta-, dehydratase - ALS4: amyotrophic lateral sclerosis 4
- ASS: argininosuccinate synthetase
- CCL21CCL21Chemokine ligand 21 is a small cytokine belonging to the CC chemokine family. This chemokine is also known as 6Ckine , exodus-2, and secondary lymphoid-tissue chemokine . The gene for CCL21 is located on human chromosome 9...
: chemokine (C-C motif) ligand 21, SCYA21 - CCL27CCL27Chemokine ligand 27 is a small cytokine belonging to the CC chemokine family also known under the names IL-11 R-alpha-locus chemokine , Skinkine, ESkine and Cutaneous T-cell-attracting chemokine . It is associated with homing of memory T lymphocytes to the skin, and plays a role in T...
: chemokine (C-C motif) ligand 27, SCYA27 - COL5A1COL5A1Collagen alpha-1 chain is a protein that in humans is encoded by the COL5A1 gene.-External links:*...
: collagen, type V, alpha 1 - ENG: endoglin (Osler-Rendu-Weber syndrome 1)
- FXN: frataxin
- GALT: galactose-1-phosphate uridylyltransferase
- GLE1LGLE1LNucleoporin GLE1 is a protein that in humans is encoded by the GLE1 gene on chromosome 9.- Mutation & Diseases :A genome-wide screening and linkage analysis assigned the disease locus of lethal congenital contracture syndrome, one of 40 Finnish heritage diseases, to a defined region of 9q34, where...
: Nucleoporin GLE1 - GRHPRGRHPRGlyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in...
: glyoxylate redasductase/hydroxypyruvate reductase - IKBKAPIKBKAPIKBKAP is a human gene that provides instructions to make the IKAP protein, which is found in a variety of cells throughout the body, including brain cells...
: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein - TGFBR1TGF beta receptor 1Transforming growth factor, beta receptor I is a TGF beta receptor. TGFBR1 is its human gene.-Interactions:...
: transforming growth factor beta, receptor type I - TMC1TMC1Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene.-Further reading:...
: transmembrane channel-like 1 - TSC1TSC1Tuberous sclerosis protein 1, also known as TSC1 or hamartin, is a human protein and gene.- Function :This peripheral membrane protein was implicated as a tumor suppressor...
: t
Diseases & disorders
The following diseases are some of those related to genes on chromosome 9:- acytosiosisAcytosiosis-Causes:Acytosiosis is caused by an autosomal recessive mutation on Chromosome 9, which causes a defect in the enzyme Alpha-cytosinase.-Symptoms:Because of the complete lack of cytosine due to the defective Alpha-cytosinase, DNA replication cannot occur. This means that any zygote with Acytosiosis...
- ALA-D deficiency porphyria
- citrullinemiaCitrullinemiaCitrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
- Ehlers-Danlos syndromeEhlers-Danlos syndromeEhlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
- Ehlers-Danlos syndrome, classical type
- familial dysautonomiaFamilial dysautonomiaFamilial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...
- Friedreich ataxia
- galactosemiaGalactosemiaGalactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
- Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome
- hereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasiaHereditary hemorrhagic telangiectasia , also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain.It may lead to nosebleeds, acute...
- lethal congenital contracture syndromeLethal congenital contracture syndromeLethal congenital contracture syndrome 1 , also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd...
- Nail-patella syndromeNail-patella syndromeNail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The name "nail-patella" can be very misleading because the syndrome often affects many other areas of the...
(NPS) - nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- OCD
- porphyriaPorphyriaPorphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
- primary hyperoxaluriaPrimary hyperoxaluriaPrimary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to malabsorption...
- Tangier's disease
- tetrasomy 9pTetrasomy 9pTetrasomy 9p is a rare genetic disease due to the inclusion of an isochromosome of the short arm of chromosome 9 . It is generally a mosaic condition.-External links:*...
- thrombotic thrombocytopenic purpuraThrombotic thrombocytopenic purpuraThrombotic thrombocytopenic purpura is a rare disorder of the blood-coagulation system, causing extensive microscopic thromboses to form in small blood vessels throughout the body...
- trisomy 9Trisomy 9Trisomy 9 is a chromosomal disorder caused by having three copies of chromosome number 9. It can appear with or without mosaicism.-Characteristics:...
- tuberous sclerosisTuberous sclerosisTuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
- VLDLR-associated cerebellar hypoplasiaVLDLR-associated cerebellar hypoplasiaVLDLR-associated cerebellar hypoplasia is a rare autosomal recessive condition caused by a disruption of the VLDLR gene...