ABCA1 [SEP] found in taxon
ABCA1
ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA), also known as the "cholesterol efflux regulatory protein" (CERP) is a protein which in humans is encoded by the "ABCA1" gene. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.
Tangier Disease.
It was discovered that a mutation in the ABCA1 protein is responsible for causing Tangier's Disease by several groups in 1998. Gerd Schmitz's group in Germany and Michael Hayden's group
are especially visible in the tonsils, as they may appear yellow/orange. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen.
Due to the cholesterol ester depositions the tonsils may be enlarged. Hepatosplenomegaly (enlarged liver and spleen) is common.
Neuropathy and cardiovascular disease are the most devastating developments caused by Tangier's disease.
Genetics.
Mutations to chromosome 9q31 lead to a defective ABCA1 transporter. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids