Fanconi Anemia, Complementation Group M (FANCM) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

FANCM: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions. Defects in FANCM are a cause of Fanconi anemia complementation group M (FANCM). FANCM is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Belongs to the DEAD box helicase family. DEAH subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Helicase; EC 3.6.4.13

Chromosomal Location of Human Ortholog: 14q21.2

Cellular Component: nucleoplasm

Molecular Function: protein binding; nuclease activity; DNA binding; chromatin binding; helicase activity; ATP binding

Biological Process: resolution of meiotic joint molecules as recombinants; DNA repair; replication fork processing

Disease: Tracheoesophageal Fistula With Or Without Esophageal Atresia; Fanconi Anemia, Complementation Group M