InterPro domain: IPR019142

Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 residues long and present in plants and animals. Human dymeclin is necessary for correct organisation of Golgi apparatus and is involved in bone development [ 1 ]. Mutations in the dymeclin gene cause Dyggve-Melchior-Clausen syndrome (DMC, MIM 223800), an autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia and mental retardation [ 2 ].

1. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. Hum. Mutat. 32, 231-9
2. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum. Mol. Genet. 12, 357-64