AAL84281.1
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NCBI Official Full Name
osterix
UniProt Comments for OSX
osterix: Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences. Defects in SP7 are the cause of osteogenesis imperfecta type 11 (OI11). A connective tissue disorder characterized by bone fragility, low bone mass, recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. Belongs to the Sp1 C2H2-type zinc-finger protein family.
Protein type: Transcription factor; DNA-binding; C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 12q13.13
Cellular Component: cytoplasm; nucleus
Molecular Function: DEAD/H-box RNA helicase binding; DNA binding; metal ion binding
Biological Process: regulation of transcription from RNA polymerase II promoter; osteoblast differentiation; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter
Disease: Osteogenesis Imperfecta, Type Xii
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