The gene responsible for this condition is located on the long arm of chromosome 1 (1q). The encoded protein is a glycoprotein of ~345 kDa specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. The cDNA encodes a protein of 1,404 amino acids (human A isoform) with a somatomedin B homology domain, heparin-binding domains, multiple mucin-like repeats, a hemopexin domain, and an aggregation domain. There are 3 consensus sequences for N-glycosylation and 1 chondroitin sulfate substitution site.
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Peters-plus syndrome
Beare–Stevenson cutis gyrata syndrome
Arthrogryposis–renal dysfunction–cholestasis syndrome
picture of Marfan syndrome
Bowen–Conradi syndrome
Senior–Løken syndrome
Barraquer–Simons syndrome