Species: | Rabbit |
Applications: | WB IHC IF |
Immunogen Range: | KLH conjugated synthetic peptide derived from human Dymeclin |
Clonality: | Polyclonal Antibody |
Isotype: | IgG |
GENE ID: | 54808 |
Swiss Prot: | |
Synonyms: | DMC, Dyggve-Melchior-Clausen syndrome protein, DYM, FLJ20071, FLJ90130, SMC, DYM_HUMAN. |
Purification: | Purified by Protein A. |
Storage: | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
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. |
Caculated MW: | / |
Observed MW: | Refer to Figures |
Applications: |
WB 1:100-1:1000 IHC 1:100-1:500 IF 1:50-1:200 |
Reacitivity: | Human, Mouse, Rat |