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FRZB

Domain

The FZ domain is involved in binding with Wnt ligands.

Function

Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development.

Involvement in disease

Osteoarthritis 1

OS1

A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the secreted frizzled-related protein (sFRP) family.

Tissue Specificity

Expressed primarily in the cartilaginous cores of the long bone during embryonic and fetal development and in the appendicular skeleton (6-13 weeks). At 13 weeks of gestation, transcripts were present in early chondroblasts of the tarsal bones of the foot, the carpal bones of the hands and the epiphysis of long bones. Highly expressed in placenta and heart, followed by brain, skeletal muscle, kidney and pancreas. Weakly expressed in lung and liver.

Cellular localization

Alternative names

FIZ, FRE, FRP, FRZB1, SFRP3, FRZB, Secreted frizzled-related protein 3, sFRP-3, Frezzled, Fritz, Frizzled-related protein 1, FrzB-1

swissprot:Q92765 entrezGene:2487 omim:605083