Gene: FANCM

Alternate names for this Gene: FAAP250|KIAA1596|POF15|SPGF28

Gene Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q21.2

Description of this Gene: FA complementation group M

Type of Gene: protein-coding

rs147021911 in FANCM gene and Fanconi Anemia PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

PMID 27542569 2016 FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.

PMID 19423727 2009 Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M.

PMID 25288723 2014 Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.

PMID 25078778 2014 Distribution and medical impact of loss-of-function variants in the Finnish founder population.

PMID 16116422 2005 A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

rs8017226 in FANCM gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs8017226 in FANCM gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.