Interferon-induced transmembrane protein 5
Interferon-induced transmembrane protein 5 is a gene that encodes a membrane protein thought to play a role in bone mineralization.
Genomics[edit | edit source]
The gene is located on the short arm of the Crick strand of chromosome 11 (11p15.5). It is located with a cluster of interferon inducible genes but is itself not interferon inducible. The gene is 1,327 bases in length and encodes a protein of 132 amino acids with a predicted molecular weight of 14378 Daltons. Expression in adults is bone specific and highest in osteoblasts.
The homolog in the mouse is located on chromosome 7. A homolog is also known to be present in lizards.
Evolution[edit | edit source]
The gene first appeared in bony fish and its bone specific expression appears to be limited to therian mammals.
Biochemistry[edit | edit source]
The protein has two transmembrane domains. It associates with FK506 binding protein 11.[1]
Clinical[edit | edit source]
Mutations in the gene are associated with osteogenesis imperfecta type 5.[2]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
