Recombinant Human Fanconi anemia group A protein (FANCA), Truncated

Uniprot Id

O15360

Target Species

Human

Target Name

FANCA

Target Full Name

Fanconi anemia group A protein

Target Function

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

Target Involvement

Fanconi anemia, complementation group A (FANCA)

Target Subcellular Location

Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

Target Synonyms

FA 1; FA; FA H; FA1; FAA; FACA; FAH; Fanca; FANCA_HUMAN; FANCH; Fanconi anemia complementation group A; Fanconi anemia complementation group H; Fanconi anemia group A protein; Fanconi anemia type 1; MGC75158; Protein FACA

Target Background

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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.