DYM
Function
Necessary for correct organization of Golgi apparatus. Involved in bone development.
Involvement in disease
Dyggve-Melchior-Clausen syndrome
DMC
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Smith-McCort dysplasia 1
SMC1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.
Sequence Similarities
Belongs to the dymeclin family.
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.
Cellular localization
- Cytoplasm
- Golgi apparatus
- Membrane
- Lipid-anchor
- Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 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.
Alternative names
Dymeclin, Dyggve-Melchior-Clausen syndrome protein, DYM