background:
IFITM5 is a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195).
Function:
Plays a role in bone mineralization (By similarity).
Subcellular Location:
Cell membrane; Multi-pass membrane protein (By similarity).
DISEASE:
Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the CD225/Dispanin family.
Database links:
Entrez Gene: 387733 Human
Entrez Gene: 73835 Mouse
SwissProt: A6NNB3 Human
SwissProt: O88728 Mouse
Unigene: 443469 Human
Unigene: 389989 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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