WISP3 ist ein Gen, das durch das Symbol CCN6 kodiert wird. Es ist auch bekannt als: Cellular communication network factor 6; CCN family member 6; WNT1-inducible-signaling pathway protein 3; WISP-3; CCN6. WISP3 hat eine Masse von 39.29kDa, eine Aminosäurelänge von 354, und ist an Progressive pseudorheumatoid arthropathy of childhood beteiligt.
Wir bieten 6 antikörper gegen WISP3, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:27252383, PubMed:10471507).
Entrez Zusammenfassung
This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene.
Gewebespezifität
Predominant expression in adult kidney and testis and fetal kidney. Weaker expression found in placenta, ovary, prostate and small intestine (PubMed:9843955, PubMed:10471507). Also expressed in skeletally-derived cells such as synoviocytes and articular cartilage chondrocytes (PubMed:10471507).
Rolle bei Krankheiten
Progressive pseudorheumatoid arthropathy of childhood: Autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.
Sequenzähnlichkeiten
Belongs to the CCN family.
Zellort
Secreted. Mitochondrion.
Associated with membranes.
