Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Fanconi-assoziierte Nuklease 1

Das FAN1-Gen kodiert eine cysteinreiche Tyrosinphosphatase, welche an der an der Reparatur von DNA-SChäden beteiligt zu sein scheint. Mutationen sind für die autosomal rezessive tubulointerstitielle Nephritis mit Karyomegalie verantwortlich.

Gentests:

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

Verknüpfte Erkrankungen:

Karyomegale interstitielle Nephritis
FAN1

Referenzen:

1.

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

[^]
2.

Spoendlin M et al. (1995) Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.

[^]
3.

Godin M et al. (1996) Karyomegalic interstitial nephritis.

[^]
4.

Baba F et al. (2006) Karyomegalic tubulointerstitial nephritis--a case report.

[^]
5.

Cannavo E et al. (2007) Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.

[^]
6.

Palmer D et al. (2007) Karyomegalic interstitial nephritis: a pitfall in urine cytology.

[^]
7.

MacKay C et al. (2010) Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.

[^]
8.

Kratz K et al. (2010) Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.

[^]
9.

Smogorzewska A et al. (2010) A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.

[^]
10.

Verine J et al. (2010) [Karyomegalic interstitial nephritis: A new French case].

[^]
11.

Liu T et al. (2010) FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.

[^]
12.

Zhou W et al. (2012) FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

[^]
13.

Wang R et al. (2014) DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.

[^]
14.

OMIM.ORG article

Omim 613534 [^]
15.

Orphanet article

Orphanet ID 308114 [^]
16.

NCBI article

NCBI 22909 [^]
Update: 29. April 2019