Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Familiäre Tumorcalcinose
Familiäre hyperphosphatämische tumorale Kalzinose
FGF23
GALNT3
KL
Familiäre normophosphatämische tumorale Kalzinose
SAMD9

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 external link
19.

NCBI article

NCBI 2591 external link
20.

OMIM.ORG article

Omim 601756 external link
Update: 14. August 2020
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