Fanconi anemia, complementation group A, also known as
FANCA, is a
proteinProteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the
FANCA geneA gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
The Fanconi anemia complementation group (FANC) currently includes FANCA,
FANCBFanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.-Further reading:...
, FANCC, FANCD1 (also called
BRCA2BRCA2 is a protein that in humans is encoded by the BRCA2 gene.BRCA2 orthologs have been identified in most mammals for which complete genome data are available....
),
FANCD2Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation group currently includes FANCA, FANCB, FANCC, FANCD1 , FANCD2 , FANCE, FANCF, FANCG, and FANCL.- Function :Fanconi anemia is a genetically heterogeneous recessive disorder...
,
FANCEFanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene.-Interactions:FANCE has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCD2, FANCF and FANCA.-Further reading:...
,
FANCFFanconi anemia group F protein is a protein that in humans is encoded by the FANCF gene.-Interactions:FANCF has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCA and FANCE.-Further reading:...
,
FANCGFanconi anemia group G protein is a protein that in humans is encoded by the FANCG gene.-Interactions:FANCG has been shown to interact with FANCF, FANCA, FANCE and BRCA2.-Further reading:...
, and
FANCLE3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the FANCL gene.-Further reading:...
. 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 crosslinkingCrosslinks in DNA occur when various exogenous or endogenous agents react with two different positions in the DNA. This can either occur in the same strand or in the opposite strands of the DNA . Crosslinks also occur between DNA and protein...
agents, increased chromosomal breakage, and defective DNA repair.