FANCA

FANCA
Identifiers
Aliases	FANCA, FA, FA-H, FA1, FAA, FACA, FAH, FANCH, Fanconi anemia complementation group A, FA complementation group A
External IDs	OMIM: 607139; MGI: 1341823; HomoloGene: 108; GeneCards: FANCA; OMA:FANCA - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	89,816,977 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	124,045,315 bp
RNA expression pattern
	Top expressed in
	right testis; ; ventricular zone; ; left testis; ; ganglionic eminence; ; mucosa of transverse colon; ; testicle; ; granulocyte; ; gonad; ; monocyte; ; bone marrow cells;
	Top expressed in
	granulocyte; ; tail of embryo; ; medullary collecting duct; ; ventricular zone; ; spermatocyte; ; epiblast; ; genital tubercle; ; embryo; ; yolk sac; ; blastocyst;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; Fanconi anaemia nuclear complex; nucleus; nucleoplasm;
Biological process	male meiotic nuclear division; male gonad development; regulation of cell population proliferation; interstrand cross-link repair; DNA repair; female gonad development; cellular response to DNA damage stimulus; regulation of DNA-binding transcription factor activity; regulation of CD40 signaling pathway; regulation of regulatory T cell differentiation; regulation of inflammatory response; protein-containing complex assembly;
	Sources:Amigo / QuickGO
Orthologs
	2175
	14087
	ENSG00000187741
	ENSMUSG00000032815
	O15360
	Q9JL70
	NM_000135; NM_001018112; NM_001286167; NM_001351830
	NM_016925
	NP_000126; NP_001018122; NP_001273096; NP_001338759
	NP_058621
	Wikidata
View/Edit Human	View/Edit Mouse

Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint. FANCA proteins are involved in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability that regulates the differentiation of haematopoietic stem cells into mature blood cells.

Mutations involving the FANCA gene are associated with many somatic and congenital defects, primarily involving phenotypic variations of Fanconi anaemia, aplastic anaemia, and forms of cancer such as squamous cell carcinoma and acute myeloid leukaemia.