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Immunogen sequence: PSSIPHAFQ INFNSLYTAL CEQQTSDQAT LLLYTLLHQN SNIRTYMLAR TDMENLVLPI LEILYHVEER NSHHVYMALI ILLILTEDDG FNRSIHEVIL KNITWYSERV LTEISLGSLL ILVVIRTIQY NMTRTRDKYL HTNCLAALAN MSAQFRSLHQ YAAQRIISLF SLLSKKHNKV LEQATQSLRG SLSSNDVPLP DYAQDLNVIE EVIRMMLEII NSCLTNSLHH NPNLVYALLY KRDLFEQFRT HPSFQDIMQN IDLVISFFSS RLLQAGAELS VERVLEIIKQ GVVALPKDRL KKFPELKFKY VEEEQPEEFF IPYVWSLVYN SAVGLYWNPQ DIQLFTMDSD (242-590 aa encoded by BC001252)
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: 1810041M12Rik; 4933427L07Rik; C030019K18Rik; DMC; DYM; RGD1309111; SMC
UniProt ID: (Human) Q7RTS9, (Mouse) Q8CHY3, (Rat) B4F766
Entrez Gene ID: (Human) 54808, (Mouse) 69190, (Rat) 291433
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