Polypeptide N-acetylgalactosaminyltransferase 3
Das vom GALNT3-Gen kodierte Protein UDP-GalNAc ist für die O-Glykosilierung des Proproteins (FGF23) verantwortlich. Die O-Glycosilierung ist für die Aktivierung des FGF23 verantwortlich, so dass funktionsmindernde Mutationen zu einer verstärkten FGF23-Abbau und damit zu einer verminderten Sekretion führen. Inaktivierende Mutation führen zur autosomal rezessiven hyperphosphatämischen familiären Tumorcalcinose.
Genregulation
Das vom GALNT3-Gen kodierte Protein UDP-GalNAc ist für die
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Lyles KW et al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.
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2. |
Laleye A et al. (2008) Tumoral calcinosis due to GALNT3 C.516-2A >T mutation in a black African family.
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3. |
Barbieri AM et al. (2007) Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.
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4. |
Ichikawa S et al. (2007) Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.
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5. |
Kato K et al. (2006) Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.
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6. |
Bennett EP et al. (1998) Genomic organization and chromosomal localization of three members of the UDP-N-acetylgalactosamine: polypeptide N-acetylgalactosaminyltransferase family.
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7. |
Zara J et al. (1996) Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3.
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8. |
Bennett EP et al. (1996) cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine. Polypeptide N-acetylgalactosaminyltransferase, GalNAc-t3.
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9. |
Ichikawa S et al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
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10. |
Ichikawa S et al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.
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11. |
Specktor P et al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
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12. |
Ichikawa S et al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
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13. |
Frishberg Y et al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
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14. |
Topaz O et al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
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15. |
MCPHAUL JJ et al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.
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16. |
Slavin RE et al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.
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17. |
Steinherz R et al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.
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18. |
Orphanet article
Orphanet ID 122006
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19. |
NCBI article
NCBI 2591
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20. |
OMIM.ORG article
Omim 601756
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Update: 14. August 2020