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Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X
A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.
BMC Genet.. 2013;14:61, PMID: 23829304
The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T lymphocytes response, and polymorphisms in human BTNL2 have been linked to several inflammatory diseases, such as pulmonary sarcoidosis, inflammatory bowel disease and neonatal lupus.
GENETICS & HEREDITY
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