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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Dyggve-Melchior-Clausen syndrome protein; Dymeclin
基因别名: 1810041M12Rik; 4933427L07Rik; C030019K18Rik; DMC; DYM; SMC
UniProt ID: (Human) Q7RTS9, (Mouse) Q8CHY3
Entrez Gene ID: (Human) 54808, (Mouse) 69190