Chromosome 19 (human)

Chromosome 19 is one of 23 pairs of chromosomes in humans. A normal person has two nearly identical copies of this chromosome in most of its cells.

Decryption of chromosome 19

The chromosome 19 consists of 63.8 million base pairs ( one base pair is the smallest information unit of DNA ). Chromosome 19 contains about 2 to 2.5 % of the total DNA of a human cell. The identification of the genes on this chromosome is the part of the ongoing process of the human genome. On chromosome 19 there are 1427 to 1700 genes, of which 1427 are known. The chromosome 19 has the highest gene density of all human chromosomes, it is approximately twice as high as with other chromosomes.

The phenotype of the Bombay blood group is located on chromosome 19

Known genes on chromosome 19

The chromosome 19 contains the following genes:

  • ApoE: apolipoprotein E
  • KIR: Killer cell immunoglobulin - like receptor
  • KLK4: Kallikrein -related peptidase 4
  • KISS1R: Kiss1 receptor
  • LDLR: LDL receptor
  • PRTN3: Proteinase 3
  • NPHS1: nephrin
  • TGFB1: Transforming Growth Factor β1
  • TnT: troponin

Medical importance

With the genes located on chromosome 19 following genetic diseases or symptoms are associated. These include:

  • Maple syrup urine disease
  • Acute lymphoblastic leukemia
  • CADASIL ( Cerebral Autosomal Dominant arteriopathy with Subcortical Infarcts and leukoencephalopathy )
  • Camurati - Engelmann syndrome
  • Diamond - Blackfan syndrome
  • Familial hemiplegic migraine
  • Focal segmental glomerulosclerosis ( hereditary form )
  • Hyperlipoproteinemia type 2
  • Hyperthyroidism
  • Mayer- Rokitansky - Küster -Hauser syndrome
  • Multicore myopathy
  • Myotonic dystrophy type 1
  • Nasu- Hakola disease ( membranous lipodystrophy)
  • Oligodendroglioma
  • Peutz -Jeghers syndrome
Hh antigen system Killer Cell Immunoglobulin-like Receptor CADASIL syndrome Camurati–Engelmann disease Peutz–Jeghers syndrome
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