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Chromosome 17 (human)

 

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Chromosome 17 (human)



 
 
Chromosome 17 is one of the 23 pairs of chromosome
Chromosome

A chromosome is an organized structure of DNA and protein that is found in Cell . A chromosome is a single piece of DNA that contains many genes, regulatory sequence and other genetic sequence....
s in human
Human

A human being, also human or man, is a member of a species of bipedalism primates in the family Hominidae . Mitochondrial DNA evidence indicates that modern humans originated in east Africa about 200,000 years ago....
s. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pair
Base pair

In molecular biology, two nucleotides on opposite complementarity DNA or RNA strands that are connected via hydrogen bonds are called a base pair ....
s (the building material of DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
) and represents between 2.5 and 3 % of the total DNA in cells
Cell (biology)

The cell is the structural and functional unit of all known Life organisms. It is the smallest unit of an organism that is classified as living, and is often called the building bricks of life....
.

Identifying gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
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.






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Chromosome 17 is one of the 23 pairs of chromosome
Chromosome

A chromosome is an organized structure of DNA and protein that is found in Cell . A chromosome is a single piece of DNA that contains many genes, regulatory sequence and other genetic sequence....
s in human
Human

A human being, also human or man, is a member of a species of bipedalism primates in the family Hominidae . Mitochondrial DNA evidence indicates that modern humans originated in east Africa about 200,000 years ago....
s. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pair
Base pair

In molecular biology, two nucleotides on opposite complementarity DNA or RNA strands that are connected via hydrogen bonds are called a base pair ....
s (the building material of DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
) and represents between 2.5 and 3 % of the total DNA in cells
Cell (biology)

The cell is the structural and functional unit of all known Life organisms. It is the smallest unit of an organism that is classified as living, and is often called the building bricks of life....
.

Identifying gene
Gene

A gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cell and pass genetic trait to offspring....
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 17 likely contains between 1,200 and 1,500 genes. It also contains the Homeobox
Homeobox

A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of development in animals, fungus and plants. Genes that have a homeobox are called homeobox genes and form the homeobox gene family....
 B gene cluster.

Genes

The following are some of the genes located on chromosome 17:
  • ACADVL
    ACADVL

    ACADVL is a gene associated with very long-chain acyl-coenzyme A dehydrogenase deficiency.See also* Acyl CoA dehydrogenase...
    : acyl-coenzyme A dehydrogenase, very long chain
  • ACTG1
    ACTG1

    Actin, gamma 1, also known as ACTG1, is a gene.See also* ActinReferencesFurther reading...
    : actin, gamma 1
  • ASPA: aspartoacylase (Canavan disease)
  • BRCA1
    BRCA1

    BRCA1 is a human gene, some mutations of which are associated with a significant increase in the risk of breast cancer, as well as other cancers....
    : breast cancer 1, early onset
  • CBX1
    CBX1

    Chromobox homolog 1 , also known as CBX1, is a human gene....
    : chromobox homolog 1
  • COL1A1
    COL1A1

    Collagen, type I, alpha 1, also known as COL1A1, is a human gene that encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, and the only component of the collagen found in cartilage....
    : collagen, type I, alpha 1
  • ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
  • FLCN: folliculin
  • GALK1: galactokinase 1
  • GFAP: glial fibrillary acidic protein
  • KCNJ2
    KCNJ2

    The Kir2.1 inward-rectifier potassium ion channel is encoded by the gene....
    : potassium inwardly-rectifying channel, subfamily J, member 2
  • MYO15A
    MYO15A

    Myosin XVA, also known as MYO15A, is a human gene.ReferencesFurther reading...
    : myosin XVA
  • NF1
    Neurofibromatosis type I

    Neurofibromatosis type I , formerly known as as Friedrich Daniel von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder....
    : neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
  • PMP22: peripheral myelin protein 22
  • SHBG: Sex hormone binding globulin
  • SLC6A4: Serotonin transporter
    Serotonin transporter

    The serotonin transporter is a monoamine transporter protein.This protein is an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons....
  • TMC6
    TMC6

    Transmembrane channel-like 6, also known as TMC6 and EVER1, is a human gene. In vivo, TMC6 and its homolog TMC8, interact and form a complex with the zinc transporter 1 and localize mostly to the endoplasmic reticulum, but also to the nuclear membrane and Golgi apparatus....
     and TMC8
    TMC8

    Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene....
    : Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis)
  • TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene
    Tumor suppressor gene

    A tumor suppressor gene, or antioncogene is a gene that protects a cell from one step on the path to cancer. When this gene is mutated to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes....
  • USH1G
    USH1G

    Usher syndrome 1G , also known as USH1G, is a human gene.ReferencesFurther reading...
    : Usher syndrome 1G (autosomal recessive)
  • RAI1
    RAI1

    RAI1 is a transcription factor associated with Smith-Magenis syndrome. It is known as retinoic acid inducible 1.External links...
    : retinoic acid induced 1
  • RARalpha: Retinoic acid receptor
    Retinoic acid receptor

    The retinoic acid receptor is a type of nuclear receptor which is activated by both retinoic acid and retinoic acid. There are three retinoic acid receptors , retinoic acid receptor alpha, retinoic acid receptor beta, and retinoic acid receptor gamma encoded by the , , genes respectively....
     Alpha (involved in t(15,17) with PML)
  • GRB7
    GRB7

    Growth factor receptor-bound protein 7, also known as GRB7, is a protein which in humans is encoded by the GRB7 gene.Function ...
    : Growth factor Receptor-Bound protein 7
  • Several CC chemokines: CCL1
    CCL1

    Chemokine ligand 1 is a small glycoprotein secreted by activated T cells that belongs to a family inflammatory cytokines known as chemokines. CCL1 attracts monocytes, NK cells, and immature B cells and dendritic cells by interacting with a cell surface chemokine receptor called CC chemokine receptors#CCR8....
    , CCL2
    CCL2

    For the ICAO airport code see Candle Lake Airpark, for the diradical compound see Dichlorocarbene.Chemokine ligand 2 is a small cytokine belonging to the CC chemokine family that is also known as monocyte chemotactic protein-1 ....
    , CCL3
    CCL3

    Chemokine ligand 3, also known as CCL3, is a human gene....
    , CCL4
    CCL4

    Chemokine ligand 4, also known as CCL4, is a protein which in humans is encoded by the CCL4 gene....
    , CCL5, CCL7
    CCL7

    Chemokine ligand 7 is a small cytokine known as a chemokine that was previously called monocyte-specific chemokine 3 . Due to CCL7 possessing two adjacent N-terminal cysteine residues in its mature protein, it is classified among the subfamily of chemokines known as CC chemokines....
    , CCL8
    CCL8

    Chemokine ligand 8 is a small cytokine belonging to the CC chemokine family that was once called monocyte chemotactic protein-2 . The CCL8 protein is produced as a protein precursor containing 109 amino acids, which is cleaved to produce mature CCL8 containing 75 amino acids....
    , CCL11
    CCL11

    Chemokine ligand 11 is a small cytokine belonging to the CC chemokine family that is also known as eotaxin-1. CCL11 selectively recruits eosinophils by inducing their chemotaxis, and therefore, is implicated in allergic responses....
    , CCL13
    CCL13

    Chemokine ligand 13 is a small cytokine belonging to the CC chemokine family. Its gene is located on human chromosome 17 within a large cluster of other CC chemokines.....
    , CCL14
    CCL14

    Chemokine ligand 14 is a small cytokine belonging to the CC chemokine family. It is also commonly known as HCC-1. It is produced as a protein precursor that is procesed to generate a mature active protein containing 74 amino acids that and is 46% identical in amino acid composition to CCL3 and CCL4....
    , CCL15
    CCL15

    Chemokine ligand 15 is a small cytokine belonging to the CC chemokine family that is also known as leukotactin-1, MIP5 and HCC-2. CCL15 is expressed in liver, small intestine, Colon , and in certain leukocytes and macrophages of the lung....
    , CCL16
    CCL16

    Chemokine ligand 16 is a small cytokine belonging to the CC chemokine family that is known under several pseudonyms, including Liver-expressed chemokine and Monotactin-1 ....
    , CCL18
    CCL18

    Chemokine ligand 18 is a small cytokine belonging to the CC chemokine family that was previously called PARC . CCL18 is approximately 60% identical in amino acid sequence to CCL3....
    , and CCL23
    CCL23

    Chemokine ligand 23 is a small cytokine belonging to the CC chemokine family that is also known as Macrophage inflammatory protein 3 and Myeloid progenitor inhibitory factor 1 ....


Diseases & disorders

The following diseases are related to genes on chromosome 17:
  • Alexander disease
    Alexander disease

    Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics....
  • Andersen-Tawil syndrome
    Andersen-Tawil syndrome

    Andersen-Tawil syndrome. also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern....
  • Birt-Hogg-Dubé syndrome
    Birt-Hogg-Dubé syndrome

    Birt-Hogg-Dub? syndrome is a very rare human genetic disorder. The disorder has been reported in more than 100 families worldwide, and it is heredity in an autosomal dominant pattern....
  • Bladder cancer
    Bladder cancer

    Bladder cancer refers to 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....
  • Breast cancer
    Breast cancer

    Breast cancer is a cancer that starts in the Cell of the breast in women and men. Worldwide, breast cancer is the second most common type of cancer after lung cancer and the fifth most common cause of cancer death....
  • Camptomelic dysplasia
    Camptomelic dysplasia

    Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, commonly seen in this disorder....
  • Canavan disease
    Canavan disease

    Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosome dominance degenerative disorder that causes progressive damage to nerve cells in the brain....
  • Charcot-Marie-Tooth disease
    Charcot-Marie-Tooth disease

    Charcot-Marie-Tooth disease , known also as Hereditary Motor and Sensory Neuropathy , Hereditary Sensorimotor Neuropathy , or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands...
  • Charcot-Marie-Tooth disease, type 1
  • Cystinosis
    Cystinosis

    Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an dominance relationship inheritance pattern....
  • Ehlers-Danlos syndrome
    Ehlers-Danlos syndrome

    Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening....
  • Ehlers-Danlos syndrome, arthrochalasia type
  • Ehlers-Danlos syndrome, classical type
  • Epidermodysplasia verruciformis
    Epidermodysplasia verruciformis

    Epidermodysplasia verruciformis is an extremely rare autosomal recessive genetic genodermatosis associated with a high risk of carcinoma of the skin....
  • Galactosemia
    Galactosemia

    Galactosemia is a rare genetics Metabolism Disease which affects an individual's ability to properly metabolize the sugar galactose.Galactosemia is somestimes confused with Lactose-Intolerance, but unlike lactose-intolerance, galactosemia is not something that someone can "grow out of." Once diagnosed, its there for the rest of the persons li...
  • Hereditary neuropathy with liability to pressure palsies
  • Li-Fraumeni syndrome
    Li-Fraumeni syndrome

    Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. It is named after Frederick Pei Li and Joseph F. Fraumeni, Jr., the American physicians who first recognized and described the syndrome....
  • Maturity onset diabetes of the young
    Maturity onset diabetes of the young

    Maturity onset diabetes of the young refers to any of several genetic disorder forms of diabetes mellitus caused by mutations in an Autosomal_dominant#Autosomal_dominant_gene disrupting insulin production....
     type 5
  • Miller-Dieker syndrome
    Miller-Dieker syndrome

    Miller-Dieker syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration....
  • Neurofibromatosis type I
    Neurofibromatosis type I

    Neurofibromatosis type I , formerly known as as Friedrich Daniel von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder....
  • Nonsyndromic deafness
    Nonsyndromic deafness

    Nonsyndromic deafness is Hearing impairment 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
  • Osteogenesis imperfecta
    Osteogenesis imperfecta

    Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein , or the ability to make it, usually because of a deficiency of Type-I collagen....
  • Osteogenesis Imperfecta, Type I
    Osteogenesis imperfecta

    Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein , or the ability to make it, usually because of a deficiency of Type-I collagen....
  • Osteogenesis Imperfecta, Type II
    Osteogenesis imperfecta

    Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein , or the ability to make it, usually because of a deficiency of Type-I collagen....
  • Osteogenesis Imperfecta, Type III
    Osteogenesis imperfecta

    Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein , or the ability to make it, usually because of a deficiency of Type-I collagen....
  • Osteogenesis Imperfecta, Type IV
    Osteogenesis imperfecta

    Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein , or the ability to make it, usually because of a deficiency of Type-I collagen....
  • Smith-Magenis syndrome
    Smith-Magenis syndrome

    Smith-Magenis Syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate mental retardation, distinctive facial features, sleep disturbances, and behavioral problems....
  • Usher syndrome
    Usher syndrome

    A leading cause of deafblindness, Usher syndrome is a relatively rare genetic disorder that is associated with a mutation in any one of 10 genes....
  • Usher syndrome type I
  • Very long-chain acyl-coenzyme A dehydrogenase deficiency
    Very long-chain acyl-coenzyme A dehydrogenase deficiency

    Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food....