FANCA information

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
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
	ganglionic eminence; ; monocyte; ; bone marrow cells; ; lymph node; ; appendix; ; stromal cell of endometrium; ; rectum; ; blood; ; right lobe of liver; ; spleen;
	Top expressed in
	medullary collecting duct; ; spermatocyte; ; yolk sac; ; thymus; ; spermatid; ; morula; ; right ventricle; ; ganglionic eminence; ; lip; ; secondary oocyte;
	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.^[5] 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.^[6]

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.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187741 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032815 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: FANCA Fanconi anemia, complementation group A".
^ Dokal I (2006). "Fanconi's anaemia and related bone marrow failure syndromes". Br. Med. Bull. 77–78: 37–53. doi:10.1093/bmb/ldl007. PMID 16968690.
^ Tischkowitz MD, Hodgson SV (January 2003). "Fanconi anaemia". J. Med. Genet. 40 (1): 1–10. doi:10.1136/jmg.40.1.1. PMC 1735271. PMID 12525534.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187741 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032815 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: FANCA Fanconi anemia, complementation group A".

[dokal-6] Dokal I (2006). "Fanconi's anaemia and related bone marrow failure syndromes". Br. Med. Bull. 77–78: 37–53. doi:10.1093/bmb/ldl007. PMID 16968690.

[FA-7] Tischkowitz MD, Hodgson SV (January 2003). "Fanconi anaemia". J. Med. Genet. 40 (1): 1–10. doi:10.1136/jmg.40.1.1. PMC 1735271. PMID 12525534.

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