DMC (DYM) Active Protein

This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]

Function: Necessary for correct organization of Golgi apparatus. Involved in bone development. Ref.8

Subunit structure: Interacts with GOLM1 and PPIB. Ref.8

Subcellular location: Cytoplasm. Golgi apparatus. Note: Sequence analysis programs clearly predict 1 transmembrane region. However, Ref.7 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol. Ref.7 Ref.8

Tissue specificity: Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland. Ref.1 Ref.7

Post-translational modification: Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.

Involvement in disease: Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]: A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.9Smith-McCort dysplasia 1 (SMC1) [MIM:607326]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.9 Ref.10

Sequence similarities: Belongs to the dymeclin family.