Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Fanconi-associated nuclease 1

The FAN1 gene encodes a cysteine-based protein tyrosine phosphatases, which is involved in nuclear damage repair. Mutations cause autosomal recessive karyomegalic tubulointerstitial nephritis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Karyomegalic interstitial nephritis
FAN1

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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.

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14.

OMIM.ORG article

Omim 613534 external link
15.

Orphanet article

Orphanet ID 308114 external link
16.

NCBI article

NCBI 22909 external link
17.

Wikipedia article

Wikipedia EN (FAN1) external link
Update: Aug. 14, 2020
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