Uromodulin
Das Protein, welches vom Uromodulin-Gen kodiert wird ist besser als Tamm-Horsfall-Protein bekannt. Es ist ein wichtiger Bestandteil des normalen Urins. Obwohl heterozygote Mutationen dafür verantwortlich sind, ist der exakte Mechanismus nicht bekannt, der zur Ausbildung der hyperurikämischen Nephropathie und zur medullären oder glomerulären Zystennierenerkrankungen führt.
Genstruktur
Das Gen besteht aus 12 Exons, von denen 11 translatiert werden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.
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2. |
Fukuoka S et al. (1997) Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-->q37 by in situ hybridization.
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3. |
Jeanpierre C et al. (1993) Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.
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4. |
Pook MA et al. (1993) Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
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5. |
Pennica D et al. (1987) Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein.
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6. |
Muchmore AV et al. (1985) Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women.
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7. |
Bisceglia M et al. (2006) Renal cystic diseases: a review.
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8. |
Yang H et al. (2004) Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.
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9. |
TAMM I et al. (1952) A mucoprotein derived from human urine which reacts with influenza, mumps, and Newcastle disease viruses.
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10. |
Vylet'al P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
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11. |
Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
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12. |
Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
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13. |
Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
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14. |
Stibůrková B et al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.
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15. |
Stibůrková B et al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
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16. |
Orphanet article
Orphanet ID 120412
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17. |
NCBI article
NCBI 7369
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18. |
OMIM.ORG article
Omim 191845
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19. |
Wikipedia Artikel
Wikipedia DE (Uromodulin)
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Update: 14. August 2020