FANCF gene

Fanconi anemia complementation group F

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 F. [provided by RefSeq, Jul 2008]

From UniProt:

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Tracheoesophageal fistula
  • Fanconi anemia, complementation group F

From UniProt:

Fanconi anemia complementation group F (FANCF): 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. [MIM:603467]

Cytogenetic Location: 11p14.3, which is the short (p) arm of chromosome 11 at position 14.3

Molecular Location: base pairs 22,622,533 to 22,625,841 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p14.3, which is the short (p) arm of chromosome 11 at position 14.3