Chromosome 2 (human)

Chromosome 2 is one of 23 pairs of chromosomes in humans. Usually a person in most of its cells has two nearly identical copies of this chromosome. It is the second largest chromosome of man.

Chromosome 2 is unique to the human lineage since it is the result of a head-on merger between two medium-sized primordial chromosomes.

Decryption of chromosome 2

The chromosome 2 consists of about 243 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 2 containing about 8 % 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 2 are 1300-1900 genes. After the first sequencing in April 2005 1346 protein - coding genes and 1239 pseudo - genes were found. Pseudo - genes are not functional ( " disconnected " ) genes.

Known genes on chromosome 2

The chromosome 2 includes the following genes:

  • GGCX: γ - Glutamylcarboxylase
  • LCT: lactase
  • TTN: titin
  • Transforming growth factor TGF - α
  • LRRTM1: " left-handed gene"

Medical importance

Due to its size and the large number of genes known to be associated with the genes located on chromosome 2 many genetic diseases or prädispositionierte in conjunction. These include:

  • Alport syndrome
  • Amyotrophic Lateral Sclerosis
  • Bethlem myopathy
  • Carney complex
  • Cystinuria
  • Ehlers -Danlos syndrome
  • Hereditary nonpolyposis colorectal cancer non-
  • Lactose intolerance ( not a disease, but for the most part of mankind normal state)
  • MODY
  • Crohn's disease
  • Pulmonary hypertension
  • Waardenburg syndrome
Orangutan Pseudogene Ehlers–Danlos syndrome Maturity onset diabetes of the young Digital Object Identifier
188624
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