ZNF687
Developmental stage
Up-regulated during osteoclastogenesis induced by treatment of peripheral blood mononuclear cells with CSF1 and TNFSF11, as well as during osteoblastogenesis.
Function
May be involved in transcriptional regulation.
Involvement in disease
Paget disease of bone 6
PDB6
An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
Tissue Specificity
Widely expressed with highest levels in obvary, muscle, blood and lung.
Cellular localization
- Cytoplasm
- Nucleus
- Predominantly nuclear (PubMed:26849110). Localizes to sites of DNA damage (PubMed:27732854).
Alternative names
KIAA1441, ZNF687, Zinc finger protein 687