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FANCC Fanconi anemia, complementation group C [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000136 Homo sapiens Fanconi anemia, complementation group C (FANCC), mRNA. Full Length $1614.20
ORF Sequence $486.33


Gene Symbol FANCC
Entrez Gene ID 2176
Full Name Fanconi anemia, complementation group C
Synonyms FA3, FAC, FACC, FLJ14675
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q22.3
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 C. [provided by RefSeq].
Disorder

MIM: 227645

Fanconi anemia, complementation group C (3)
mRNA NM_000136, 56118235
Protein NP_000127, 56118236
Product Fanconi anemia group C protein
RefSeq Status REVIEWED
Pathway Interaction Database
bard1pathwayBARD1 signaling events
Reactome
REACT_216DNA Repair
REACT_18410Fanconi Anemia pathway
Homo sapiens (human)FANCCNP_000127.2
Pan troglodytes (chimpanzee)FANCCXP_001150918.1
Canis lupus familiaris (dog)FANCCXP_848991.1
Bos taurus (cattle)FANCCNP_776741.1
Mus musculus (house mouse)FanccNP_032011.2
Rattus norvegicus (Norway rat)FanccNP_036689.1
Gallus gallus (chicken)FANCCNP_001006587.2
Danio rerio (zebrafish)fanccNP_001035727.1
Process
IDNameEvidence
GO:0002262myeloid cell homeostasisIEA
GO:0006281DNA repairTAS
GO:0006289nucleotide-excision repairIEA
GO:0006461protein complex assemblyTAS
GO:0007281germ cell developmentIEA
GO:0019430removal of superoxide radicalsIEA
Component
IDNameEvidence
GO:0000785chromatinIEA
GO:0005634nucleusIEA
GO:0005654nucleoplasmTAS
GO:0005737cytoplasmIEA
GO:0005829cytosolIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards FANCC
UniProt Q00597
MIM 227645
Ensembl ENSG00000158169
HGNC 3584
HPRD 01967

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