Gene Symbol | FAN1 |
Entrez Gene ID | 22909 |
Full Name | FANCD2 and FANCI associated nuclease 1 |
Synonyms | KIAA1018,KMIN,MTMR15,hFAN1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]. |
Disorder MIM: | |
Disorder Html: | Interstitial nephritis, karyomegalic, 614817 (3) |