Chromosome 7 represents more than 5% of the total DNA in cells.
|Summary:||Gene examples of chromosome 7:|
|CFTR (cystic fibrosis transmembrane conductance regulator): The protein of this gene builds a channel across the membrane of cells that line the passageways of the lungs, digestive system, reproductive system and other organs and tissues that produce mucus, sweat, saliva, tears and digestive enzymes. The channel regulates the transport of chloride ions and the movement of water into and out of cells and is responsible for maintaining the fluidity of mucus and other secretions. Mutations in the CFTR gene alter the structure or stability of the chloride channel. As a result, the cells produce mucus that is abnormally thick and sticky and obstructs the airways and glands, leading to the characteristic symptoms of cystic fibrosis.|
Other mutations in CFTR cause a congenital bilateral absence of the vas deferens (the tubes that carry sperm from the testicles) and lead therefore to infertility of males.
Chromosome 7 contains a specific region of more than 20 genes (amongst others the CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes), whose deletion cause the Williams syndrome. This syndrome is a developmental disorder that is characterized by mild to moderate mental retardation or learning disabilities, unique personality characteristics, distinctive facial features and heart and blood vessel problems.