Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: RMMLEIINSCL TNSLHHNPNL VYALLYKRDL FEQFRTHPSF QDIMQNIDLV ISFFSSRLLQ AGAELSVERV LEIIKQGVVA LPKDRLKKFP ELKFKYV
Highest antigen sequence identity to the following orthologs - mouse 100%, rat 99%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Dyggve-Melchior-Clausen syndrome protein; Dymeclin
Gene Aliases: DMC; DYM; SMC
UniProt ID: (Human) Q7RTS9
Entrez Gene ID: (Human) 54808
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