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:
Related Diseases:
References:
1. |
Spoendlin M et al. (1995) Karyomegalic interstitial nephritis: further support for a distinct entity and evidence for a genetic defect.
|
2. |
Wang R et al. (2014) DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.
|
3. |
Zhou W et al. (2012) FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
|
4. |
Liu T et al. (2010) FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.
|
5. |
Verine J et al. (2010) [Karyomegalic interstitial nephritis: A new French case].
|
6. |
Smogorzewska A et al. (2010) A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.
|
7. |
Kratz K et al. (2010) Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents.
|
8. |
MacKay C et al. (2010) Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.
|
9. |
Palmer D et al. (2007) Karyomegalic interstitial nephritis: a pitfall in urine cytology.
|
10. |
Cannavo E et al. (2007) Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.
|
11. |
Baba F et al. (2006) Karyomegalic tubulointerstitial nephritis--a case report.
|
12. |
Godin M et al. (1996) Karyomegalic interstitial nephritis.
|
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.
|
14. |
OMIM.ORG article
Omim 613534
|
15. |
Orphanet article
Orphanet ID 308114
|
16. |
NCBI article
NCBI 22909
|
17. |
Wikipedia article
Wikipedia EN (FAN1)
|
Update: Aug. 14, 2020