Chromosome 18 (human)

Chromosome 18 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 18

The chromosome 18 consists of 76.1 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 18 contains about 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 18 are located between 300 and 500 genes. So far, 289 of them are known. Chromosome 18 is one of the genärmsten human chromosomes.

Known genes on chromosome 18

The chromosome 18 contains the following genes:

  • APCDD1: glycoprotein on the cell membrane of the hair follicles
  • Bcl -2 ( for Bcl -2 family belonging ): regulator of the metabolic functions of mitochondria under ischemic conditions
  • MBP: myelin basic protein, important for myelin sheath of nerve cells

Medical importance

With the genes located on chromosome 18, the following genetic diseases or symptoms are associated. These include:

  • Bipolar disorder ( gene MAFD1 )
  • B- cell lymphoma 2 ( Bcl -2 gene )
  • De Grouchy Syndrome
  • Dyggve - Melchior -Clausen syndrome
  • Edwards syndrome ( trisomy 18)
  • Selective mutism
  • Erythropoietic protoporphyria
  • Follicular lymphoma
  • Hypotrichosis (with mutation of the gene Leu9Arg APCDD1 )
  • Pena - Shokeir syndrome
  • Pitt- Hopkins syndrome
  • Seckel syndrome type 2
  • Smith - McCort syndrome
  • Stuttering ( family permanently, the gene in question is named STUT1, gene locus: 18p11.3 - p11.2 )
  • Focal dystonia ( 18p )
Bcl-2 Pitt–Hopkins syndrome Digital Object Identifier Uniform Resource Name
188669
de