Reference Work Entry

Encyclopedia of Genetics, Genomics, Proteomics and Informatics

pp 1056-1056


Keutel Syndrome

A human chromosome 12p12.3 area recessive defect involving lung, hearing, cartilage, and face. The gene encodes an 84-amino acid transmembrane protein MGP with a 19-amino acid signal peptide. It belongs to the family of extracellular matrix proteins. In all these proteins γ-carboxyglutamic acid is found. This residue potentiates high affinity for Ca, PO4 and hydroxyapatite crystals and calcification of the extracellular matrix. extracellular matrix, Singleton-Merten syndrome

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