Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.
Keutel syndrome
KTLS
An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Requires vitamin K-dependent gamma-carboxylation for its function.
Belongs to the osteocalcin/matrix Gla protein family.
Proteins
12353Da
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