Human chromosome 11

Human chromosome 11 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Genes

Chromosome 11 contains over 1,300 genes, which are responsible for various bodily functions and characteristics. Some notable genes on chromosome 11 include:

• HBB: involved in the production of hemoglobin. Mutations in this gene can lead to disorders such as sickle cell disease and beta thalassemia.
• MEN1: associated with multiple endocrine neoplasia type 1, a disorder that affects the endocrine glands.
• PAX6: plays a crucial role in eye and brain development. Mutations can lead to eye disorders such as aniridia.

Genetic disorders

Several genetic disorders are associated with chromosome 11, including:

• Beckwith-Wiedemann syndrome: a growth disorder that causes large body size, large organs, and other symptoms.
• Jacobsen syndrome: caused by a deletion of material near the end of the long arm of chromosome 11.
• Jervell and Lange-Nielsen syndrome: a rare inherited condition that affects the inner ear and heart, leading to deafness and heart rhythm problems.

Characteristics

Chromosome 11 is characterized by regions of high gene density, particularly in its short arm (11p). The long arm (11q) contains regions that are crucial for the regulation of cell growth and division.

Research

Research on chromosome 11 has been extensive, focusing on the mapping of the genes and the diseases associated with them. This research has implications for the development of treatments for the various genetic disorders linked to this chromosome.

See also

• Genetic disorder
• Chromosomal abnormalities
• Human genome