Products

Western Blot (Transfected lysate)

Immunofluorescence (Transfected cell)

Flow Cytometry (Transfected cell)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

FANCA

Gene Alias

FA, FA-H, FA1, FAA, FACA, FAH, FANCH, MGC75158

Gene Description

Fanconi anemia, complementation group A

Omim ID

Gene Ontology

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

Other Designations

Fanconi anemia, complementation group H|Fanconi anemia, type 1