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Encyclopedia > Chromosome 17 (human)

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million base pairs (the building material of DNA) and represents between 2.5 and 3 percent of the total DNA in cells. Figure 1: Chromosome. ... Binomial name Homo sapiens Linnaeus, 1758 Subspecies Homo sapiens idaltu  (extinct) Homo sapiens sapiens Homo (genus). ... In molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair (often abbreviated bp). ... 3D model of a section of the DNA molecule Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life (and most viruses). ... Cells in culture, stained for keratin (red) and DNA (green) The cell is the structural and functional unit of all living organisms, and are sometimes called the building blocks of life. ...


Identifying genes 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. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...


Genes

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

  • ACADVL: acyl-coenzyme A dehydrogenase, very long chain
  • ACTG1: actin, gamma 1
  • ASPA: aspartoacylase (Canavan disease)
  • BRCA1: breast cancer 1, early onset
  • COL1A1: 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: potassium inwardly-rectifying channel, subfamily J, member 2
  • MYO15A: myosin XVA
  • NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
  • PMP22: peripheral myelin protein 22
  • TP53: tumor protein p53 (Li-Fraumeni syndrome)
  • USH1G: Usher syndrome 1G (autosomal recessive)
  • RARalpha: Retenoic Acid Receptor Alpha (involved in t(15,17) with PML)
  • GRB7: Growth factor Receptor-Bound protein 7

Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food. ... BRCA 1 (named for breast cancer 1) is a human gene located on the long arm of the 17th chromosome (17q21). ... COL1A1 (collagen, type I, alpha 1) is a human gene that is one of several genes that provide instructions for making components of collagen. ... Full name: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) ERBB2 is a proto-oncogene located at the long arm of human chromosome 17. ... Intermediate filaments are one component of the cytoskeleton - important structural components of living cells. ... TP53 (tumor protein p53 (Li-Fraumeni syndrome)) is a gene that provides instructions for making a protein called tumor protein p53. ... GRB7, Growth factor Receptor-Bound protein 7 is an SH2-domain adaptor protein that binds to Receptor-tyrosine kinases and provides the intra-cellular direct link to the RAS proto-oncogene. ...

Diseases

The following diseases are some of those related to genes on chromosome 17:

Alexander disease is a slowly progressing fatal neurodegenerative disease. ... Andersen-Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7 is a form of long QT syndrome. ... Birt-Hogg-Dubé syndrome (BHD) is a rare human genetic disorder. ... Cystoscopic view of a papillary bladder tumor (top); the bladder wall is visible on the bottom right Bladder cancer refers to any of several types of malignant growths of the urinary bladder. ... Breast cancer is cancer of breast tissue. ... Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. ... The foot of a person with Charcot-Marie-Tooth. ... Ehlers-Danlos syndrome is a group of rare (1 in 250,000 altogether) genetic disorders that diminish the bodys ability to make connective tissues. ... Galactosemia is a rare genetic metabolic disorder which affects an individuals ability to properly digest the sugar galactose. ... Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder. ... In medicine, the neurofibromatoses (singular, neurofibromatosis) are certain genetic disorders of the nervous system. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Osteogenesis imperfecta (OI), commonly known as brittle bone disease, is a group of genetic bone disorders. ... Usher syndrome is a genetic disease causing deaf-blindness. ... Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food. ...

References

  • Gilbert F (1998). Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet Test 2 (4): 357-81. PMID 10464617
Human chromosomes

{1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y} Figure 1: Chromosome. ... Chromosome 1 is one of the 23 pairs of chromosomes in humans. ... Chromosome 2 is one of the 23 pairs of chromosomes in humans. ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. ... Chromosome 4 is one of the 23 pairs of chromosomes in humans. ... Chromosome 5 is one of the 23 pairs of chromosomes in humans. ... Chromosome 6 is one of the 23 pairs of chromosomes in humans. ... Chromosome 7 is one of the 23 pairs of chromosomes in humans. ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. ... Chromosome 9 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans. ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in humans. ... Chromosome 13 is one of the 23 pairs of chromosomes in humans. ... Chromosome 14 is one of the 23 pairs of chromosomes in humans. ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. ... Chromosome 18 is one of the 23 pairs of chromosomes in humans. ... Chromosome 19 is one of the 23 pairs of chromosomes in humans. ... Chromosome 20 is one of the 23 pairs of chromosomes in humans. ... A common disease due to 3 of such chromosomes instead of the normal 2 is called Down syndrome. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. ... The X chromosome is one of the two sex chromosomes in mammals (the other is the Y chromosome). ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ...


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