Extrazelluläre Serin/Threonin-Protein-Kinase FAM20C
Das FAM20C-Gen kodiert eine sezernierte Proteinkinase, welche eine Bedeutung in der Steuerung des Phosphatstoffwechsels besitzt. Mutationen sind für das autosomal rezessive Raine-Syndrom verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Al-Gazali LI et al. (2003) Further delineation of Raine syndrome.
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2. |
Takeyari S et al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.
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3. |
Faundes V et al. (2014) Raine syndrome: an overview.
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4. |
Acevedo AC et al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
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5. |
Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.
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6. |
Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.
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7. |
Wang X et al. (2015) The specific role of FAM20C in dentinogenesis.
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8. |
Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.
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9. |
Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.
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10. |
Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.
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11. |
Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.
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12. |
Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
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13. |
Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.
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14. |
Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
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15. |
Hülskamp G et al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.
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16. |
Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia.
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17. |
NCBI article
NCBI 56975
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18. |
OMIM.ORG article
Omim 611061
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19. |
Orphanet article
Orphanet ID 138509
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Update: 14. August 2020