Girish Mahajan (Editor)

Chromosome 18 (human)

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Length (bp)
  
80,373,285 bp

Type
  
Autosome

RefSeq
  
NC_000018

No. of genes
  
988 1,017

Centromere position
  
Submetacentric

GenBank
  
CM000680

Chromosome 18 (human)

Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells.

Contents

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by only 3%, with one estimate giving 988 genes, and the other estimate giving 1,017 genes.

Genes

The following are some of the genes located in chromosome 18:

  • DCC: Deleted in Colorectal Cancer
  • FECH: ferrochelatase (protoporphyria)
  • GREB1L: encoding protein Growth regulation by estrogen in breast cancer-like
  • NPC1: Niemann-Pick disease, type C1
  • SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
  • KC6: Keratoconus gene 6, discovery reported in 2005;

    • Diseases and disorders

    The following diseases are some of those related to genes on chromosome 18:

  • Erythropoietic protoporphyria
  • Hereditary hemorrhagic telangiectasia
  • Niemann-Pick disease Type C
  • Porphyria
  • Selective Mutism
  • Edwards syndrome (Trisomy 18)
  • Tetrasomy 18p
  • Monosomy 18p
  • Pitt Hopkins Syndrome 18q21
  • 18Q- (proximal or distal deletion of the 18th chromosome)

    • References

    Chromosome 18 (human) Wikipedia
    (Text) CC BY-SA


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