YRP13042-01 [Polyclonal Antibody]
Dymeclin Rabbit Polyclonal Antibody
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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
For research use only. Not intended for diagnostic or therapeutic use!
Additional information