Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

TRAF3-interagierendes Protein 1

Das TRAF3-interagierendes Protein 1 spielt eine Rolle bei der Signaltransduktion von Interleukin 13. Mutationen sind für das autosomal rezessive Senior-Loken-Syndrom 9 verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Senior-Loken-Syndrom 9
TRAF3IP1

Referenzen:

1.

Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

external link
2.

Bizet AA et al. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

external link
3.

Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

external link
4.

Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.

external link
5.

Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

external link
6.

None (1924) The Inheritance of a Retinal Abnormality in White Mice.

external link
7.

Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

external link
8.

SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

external link
9.

LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.

external link
10.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

external link
11.

Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

external link
12.

Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

external link
13.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

external link
14.

Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

external link
15.

Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

external link
16.

Warady BA et al. (1994) Senior-Loken syndrome: revisited.

external link
17.

Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

external link
18.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

external link
19.

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

external link
20.

Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis.

external link
21.

Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

external link
22.

Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

external link
23.

Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

external link
24.

Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

external link
25.

Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

external link
26.

Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

external link
27.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

external link
28.

Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

external link
29.

Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].

external link
30.

None (1969) Hereditary renal-retinal dysplasia.

external link
31.

Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

external link
32.

Orphanet article

Orphanet ID 444522 external link
33.

NCBI article

NCBI 26146 external link
34.

OMIM.ORG article

Omim 607380 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum