ABCC7
ABCC7 is a gene in humans that encodes a protein called Cystic fibrosis transmembrane conductance regulator (CFTR). This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged particles called chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
Mutations in the ABCC7 gene cause Cystic fibrosis (CF). This condition is characterized by the production of abnormally thick, sticky mucus that can damage many of the body's organs. The most common mutation in the ABCC7 gene changes a single protein building block (amino acid) in the CFTR protein. This mutation replaces the amino acid phenylalanine with the amino acid leucine at position 508 in the protein's sequence (written as Phe508del or F508del). The altered CFTR protein is degraded and does not reach the cell membrane to transport chloride ions.
This gene is also associated with the disease Congenital bilateral absence of the vas deferens (CBAVD) in males. This condition prevents sperm from being transported out of the testes, causing infertility.
Function[edit | edit source]
The ABCC7 gene provides instructions for making a protein called CFTR. This protein is located in the cell membrane and controls the movement of negatively charged particles called chloride ions into and out of cells. The flow of ions helps regulate the amount of water in tissues and the production of mucus, which is important for removing bacteria and other particles from body tissues.
Clinical significance[edit | edit source]
Mutations in the ABCC7 gene are responsible for causing cystic fibrosis and congenital bilateral absence of the vas deferens. These conditions are characterized by the production of thick, sticky mucus that can damage many of the body's organs.
See also[edit | edit source]
References[edit | edit source]
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