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Peptide Sequence: QTSDQATLLL YTLLHQNSNI RTYMLARTDM ENLVLPILEI LYHVEERNSH HVYMALIILL ILTEDDGFNR SIHEVILKNI TWYSERVL
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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