IFITM5 Antibody

1. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect. PMID: 24478195
2. The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients. PMID: 23977282
3. The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family. PMID: 24674092
4. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation. PMID: 23408678
5. Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. PMID: 23813632
6. IFITM5 mutation is associated with Osteogenesis imperfecta type V. PMID: 23804581
7. study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable PMID: 23240094
8. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. PMID: 22863190
9. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. PMID: 22863195

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HGNC: 16644

OMIM: 610967

KEGG: hsa:387733

STRING: 9606.ENSP00000372059

UniGene: Hs.443469