Saures Dentinmatrix-Phosphoprotein 1
Das Gen DMP1 kodiert ein extrazelluläres Matrixprotein, welches für die Mineralisierung des Knochens von Bedeutung ist. Mutationen dieses Gens sind für die autosomal rezessive hypophosphatämische Rachitis verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Feng JQ et al. (2006) Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
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2. |
Lorenz-Depiereux B et al. (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
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3. |
Ling Y et al. (2005) DMP1 depletion decreases bone mineralization in vivo: an FTIR imaging analysis.
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4. |
George A et al. (1993) Characterization of a novel dentin matrix acidic phosphoprotein. Implications for induction of biomineralization.
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5. |
Aplin HM et al. (1995) Mapping of the human dentin matrix acidic phosphoprotein gene (DMP1) to the dentinogenesis imperfecta type II critical region at chromosome 4q21.
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6. |
MacDougall M et al. (1996) Assignment of DMP1 to human chromosome 4 band q21 by in situ hybridization.
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7. |
Hirst KL et al. (1997) Elucidation of the sequence and the genomic organization of the human dentin matrix acidic phosphoprotein 1 (DMP1) gene: exclusion of the locus from a causative role in the pathogenesis of dentinogenesis imperfecta type II.
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8. |
NCBI article
NCBI 1758
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9. |
OMIM.ORG article
Omim 600980
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10. |
Orphanet article
Orphanet ID 121129
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Update: 14. August 2020