Description
Product Characteristics:
Dyggve-Melchior-Clausen syndrome (DMC), a rare autosomal recessive disorder, is characterized by microcephaly, short trunk dwarfism and sometime psychomotor retardation. Cutaneous cells of affected individuals show dilated rough endoplasmic reticulum and enlarged vacuoles. The Dyggve-Melchior-Clausen syndrome protein, also designated dymeclin, may play a role in proteoglycan metabolism and intracellular protein digestion. It is a widely expressed multi-pass membrane protein, detected primarily in chondrocytes and fetal brain tissue. Defects in dymeclin are also the cause of Smith-McCort dysplasis syndrome (SMC), which has characteristics identical to those of Dyggve-Melchior-Clausen syndrome.
Subcellular location: Cytoplasm
Synonyms: DMC, Dyggve-Melchior-Clausen syndrome protein, DYM, FLJ20071, FLJ90130, SMC, DYM_HUMAN.
Target Information: 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]