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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.
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Protein Aliases: Dyggve-Melchior-Clausen syndrome protein; Dymeclin
Gene Aliases: 1810041M12Rik; 4933427L07Rik; C030019K18Rik; DMC; DYM; SMC
UniProt ID: (Human) Q7RTS9, (Mouse) Q8CHY3
Entrez Gene ID: (Human) 54808, (Mouse) 69190
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