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Rabbit Anti-Dymeclin/FITC Conjugated antibody
background:
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.
Function:
Necessary for correct organization of Golgi apparatus. Involved in bone development.
Subunit:
Interacts with GOLM1 and PPIB.
Subcellular Location:
Cytoplasmic and Golgi Apparatus
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.
Post-translational modifications:
Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.
DISEASE:
Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC) [MIM:24760]. DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive.
Defects in DYM are the cause of Smith-McCort dysplasia (SMC) [MIM:607326]. SMC is a rare autosomal recessive osteochondrodysplasia 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, features identical to those of Dyggve-Melchior-Clausen syndrome.
Similarity:
Belongs to the dymeclin family.
Database links:
Entrez Gene:
5968 Human
Omim: 607461 Human
SwissProt: Q7RTS9 Human
Unigene:
162996 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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