Chromosome 22 (human)

Chromosome 22 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 22

The chromosome 22 consists of 49.7 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 22 containing about 1.5 to 2 % of the total DNA of a human cell. It is the second smallest human chromosome. The identification of the genes on this chromosome is the part of the ongoing process of the human genome. On chromosome 22 are located between 500 and 800 genes. So far, 508 of them are known.

Chromosome 22 was the first human chromosome which has been completely sequenced.

Known genes on chromosome 22

The chromosome 22 contains the following genes:

  • MYH9: myosin, heavy chain 9
  • H1F0: histone H1
  • CPT1: Carnitine Palmityltransferase 1

Medical importance

With the genes located on chromosome 22, the following genetic diseases or symptoms are associated. These include:

  • Atypical teratoid / rhabdoid tumor
  • Bernard- Soulier syndrome type B
  • Burkitt's lymphoma
  • CDAGS syndrome
  • Epstein syndrome
  • Fechtner syndrome
  • Fibromyalgia
  • Glioblastoma
  • Kanzaki disease
  • Karak syndrome
  • Cat Eye Syndrome
  • May-Hegglin anomaly
  • Mikrodeletionsyndrom 22q11
  • Neurofibromatosis type 2
  • Rubinstein - Taybi syndrome
  • Schindler disease ( type I and III)
  • Sebastian syndrome
  • Neutrophil immunodeficiency syndrome ( NIDS )
  • Schwannomatose
  • Sorsby fundus
  • Rhabdoid predisposition syndrome -
  • Transcobalamin II type
  • Trisomy 22
  • Zellweger syndrome
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