CCN6
Function
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:10471507, PubMed:27252383).
Involvement in disease
Progressive pseudorheumatoid dysplasia
PPRD
An 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CCN family.
Tissue Specificity
Predominant expression in adult kidney and testis and fetal kidney. Weaker expression found in placenta, ovary, prostate and small intestine (PubMed:10471507, PubMed:9843955). Also expressed in skeletally-derived cells such as synoviocytes and articular cartilage chondrocytes (PubMed:10471507).
Cellular localization
- Secreted
- Mitochondrion
- Associated with membranes.
Alternative names
WISP3, UNQ462/PRO790/PRO956, CCN6, Cellular communication network factor 6, CCN family member 6, WNT1-inducible-signaling pathway protein 3, WISP-3