Chromosome 11 is one of the 23 pairs of chromosome

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. Humans normally have two copies of this chromosome. Chromosome 11 spans about 134.5 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 (the building material 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....

. It is one of the most gene- and disease-rich chromosomes in the human genome

Human genome

The human genome is the genome of Homo sapiens, which is stored on 23 chromosome pairs plus the small mitochondrial DNA. 22 of the 23 chromosomes are autosomal chromosome pairs, while the remaining pair is sex-determining...

.

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 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 pseudogene

Pseudogene

Pseudogenes are dysfunctional relatives of known genes that have lost their protein-coding ability or are otherwise no longer expressed in the cell...

s can be found on chromosome 11.

More than 40% of the 856 olfactory receptor

Olfactory receptor

Olfactory receptors expressed in the cell membranes of olfactory receptor neurons are responsible for the detection of odor molecules. Activated olfactory receptors are the initial player in a signal transduction cascade which ultimately produces a nerve impulse which is transmitted to the brain...

 genes in the human genome are located in 28 single- and multi-gene clusters along this chromosome.

Genes

The following are some of the genes located on chromosome 11:

• ACAT1
  ACAT1
  Acetyl-CoA acetyltransferase, mitochondrial also known as acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT1 gene....
  
  : acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)
• APOA4
  APOA4
  Apolipoprotein A-IV is plasma protein that is the product of the human gene APOA4.- Gene :APOA4 resides on chromosome 11 in close linkage to APOA1 and APOC3. APOA4 contains 3 exons separated by two introns, and is polymorphic, although most of the reported sequence polymorphisms occur in exon 3...
  
  : apolipoprotein A-IV
• ATM
  Ataxia telangiectasia mutated
  Ataxia telangiectasia mutated is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis...
  
  : ataxia telangiectasia mutated (includes complementation groups A, C and D)
• CD81
  CD81
  CD81 molecule, also known as CD81 , is a protein which in humans is encoded by the CD81 gene...
  
  
• WT1
  WT1
  Wilms tumor protein is a protein that in humans is encoded by the WT1 gene.- Function :This gene encodes a transcription factor that contains four zinc finger motifs at the C-terminus and a proline / glutamine-rich DNA-binding domain at the N-terminus...
  
  
• C11orf1
  C11orf1
  Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene. It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltranferase enzyme...
  
  
• CPT1A: carnitine palmitoyltransferase 1A (liver)
• DHCR7: 7-dehydrocholesterol reductase
• HBB
  HBB
  Beta globin Beta globin Beta globin (HBB, β-globinprotin that, along with alpha globin (HBA), makes up the most common form of hemoglobin in adult humans. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains.-Gene locus:...
  
  : hemoglobin, beta
• HMBS: hydroxymethylbilane VIIA
• PAX6
  PAX6
  Paired box protein Pax-6 also known as aniridia type II protein or oculorhombin is a protein that in humans is encoded by the PAX6 gene.- Function :PAX6 is a member of the Pax gene family...
  
  
• PTS
  PTS (gene)
  6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.-See also:* 6-pyruvoyltetrahydropterin synthase* 6-Pyruvoyltetrahydropterin synthase deficiency-Further reading:...
  
  : 6-pyruvoyltetrahydropterin synthase
• SAA1
  SAA1
  Serum amyloid A protein is a protein that in humans is encoded by the SAA1 gene.-Further reading:...
  
  : serum amyloid A1
• SBF2
  SBF2
  Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.-External links:*...
  
  : SET binding factor 2
• SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
• TECTA
  TECTA
  Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.-Further reading:...
  
  : tectorin alpha (nonsyndromic deafness)
• TH
  Tyrosine hydroxylase
  Tyrosine hydroxylase or tyrosine 3-monooxygenase is the enzyme responsible for catalyzing the conversion of the amino acid L-tyrosine to dihydroxyphenylalanine . It does so using tetrahydrobiopterin as a coenzyme. DOPA is a precursor for dopamine, which, in turn, is a precursor for norepinephrine ...
  
  : tyrosine hydroxylase
• USH1C
  USH1C
  Harmonin is a protein that in humans is encoded by the USH1C gene.-External links:* -Further reading:...
  
  : Usher syndrome 1C (autosomal recessive, severe)

Diseases & disorders

The following diseases are some of those related to genes on chromosome 11:

• autism (neurexin 1)
  Autism
  Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
  
  
• aniridia
  Aniridia
  Aniridia is the absence of the iris. Aniridia usually involves both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia,...
  
  
• acute intermittent porphyria
  Acute intermittent porphyria
  Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
  
  
• albinism
  Albinism
  Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
  
  
• ataxia-telangiectasia
• Beckwith-Wiedemann syndrome
  Beckwith-Wiedemann syndrome
  Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr...
  
  
• Best's disease
• beta-ketothiolase deficiency
  Beta-ketothiolase deficiency
  Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown....
  
  
• beta thalassemia
• bladder cancer
  Bladder cancer
  Bladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
  
  
• breast cancer
  Breast cancer
  Breast cancer is cancer originating from breast tissue, most commonly from the inner lining of milk ducts or the lobules that supply the ducts with milk. Cancers originating from ducts are known as ductal carcinomas; those originating from lobules are known as lobular carcinomas...
  
  
• carnitine palmitoyltransferase I deficiency
  Carnitine palmitoyltransferase I deficiency
  Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food....
  
  
• Charcot-Marie-Tooth disease
  Charcot-Marie-Tooth disease
  Charcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
  
  
• Charcot-Marie-Tooth disease, type 4
• Denys-Drash syndrome
  Denys-Drash syndrome
  Denys-Drash syndrome is a syndrome characterized by the following conditions:* gonadal dysgenesis* nephropathy* Wilms tumorDenys-Drash Syndrome is a very rare disorder.- Etiology :...
  
  
• familial Mediterranean fever
  Familial Mediterranean fever
  Familial Mediterranean fever is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in MEFV, a gene which encodes a 781–amino acid protein denoted pyrin....
  
  
• Hereditary angioedema
  Hereditary angioedema
  Hereditary angioedema presents in the second to fourth decade, and is characterized by local swelling in subcutaneous tissues....
  
   
• Jacobsen syndrome
  Jacobsen syndrome
  Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart...
  
  
• Jervell and Lange-Nielsen syndrome
  Jervell and Lange-Nielsen syndrome
  Jervell and Lange-Nielsen syndrome, a type of long QT syndrome, causes the cardiac muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden death...
  
  
• Meckel syndrome
  Meckel syndrome
  Meckel syndrome is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations, polydactyly, hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios.Meckel-Gruber syndrome is named for Johann...
  
  
• methemoglobinemia, beta-globin type
• Mixed Lineage Leukemia
• multiple endocrine neoplasia type 1
  Multiple endocrine neoplasia type 1
  Multiple endocrine neoplasia type 1 or Wermer's syndrome is part of a group of disorders that affect the endocrine system.-Explanation:...
  
  
• Hereditary Multiple Exostoses
  Hereditary multiple exostoses
  Hereditary multiple exostoses is a rare medical condition in which multiple bony spurs or lumps develop on the bones of a child...
  
  
• Niemann-Pick disease
  Niemann-Pick disease
  Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...
  
  
• nonsyndromic deafness
  Nonsyndromic deafness
  Nonsyndromic 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
• porphyria
  Porphyria
  Porphyrias 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...
  
  
• Romano-Ward syndrome
  Romano-Ward syndrome
  Romano-Ward syndrome, is the major variant of long QT syndrome. It is a condition that causes a disruption of the heart's normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats...
  
  
• Sickle cell anemia
• Smith-Lemli-Opitz syndrome
  Smith-Lemli-Opitz syndrome
  Smith-Lemli-Opitz syndrome is an autosomal recessive metabolic and developmental congenital disorder that causes the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme.-Symptoms:The signs and symptoms of SLOS syndrome vary widely...
  
  
• tetrahydrobiopterin deficiency
  Tetrahydrobiopterin deficiency
  Tetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
  
  
• Usher syndrome
  Usher syndrome
  Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis...
  
  
• Usher syndrome type I
• WAGR syndrome
  WAGR syndrome
  WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour , Aniridia , Genitourinary anomalies, and mental Retardation...