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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000136 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001243743 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001243744 Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005251802 PREDICTED: Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006717001 PREDICTED: Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006717002 PREDICTED: Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006717003 PREDICTED: Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006717004 PREDICTED: Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $549.00 14

*Business Day

Related Services

Gene Symbol FANCC
Entrez Gene ID 2176
Full Name Fanconi anemia, complementation group C
Synonyms FA3, FAC, FACC
General protein information
Preferred Names
Fanconi anemia group C protein
Names
Fanconi anemia group C protein
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, Jul 2008].
Disorder

MIM: 613899

mRNA Protein Product Sequence Price Select
NM_000136, 56118235 NP_000127, 56118236 Fanconi anemia group C protein isoform a ORF Sequence $360.00
NM_001243743, 344217745 NP_001230672, 344217746 Fanconi anemia group C protein isoform a ORF Sequence $360.00
NM_001243744, 344217747 NP_001230673, 344217748 Fanconi anemia group C protein isoform b ORF Sequence $550.00
XM_005251802, 578817183 XP_005251859, 530390729 Fanconi anemia group C protein isoform X1 ORF Sequence $400.00
XM_006717001, 578817175 XP_006717064, 578817176 Fanconi anemia group C protein isoform X2 ORF Sequence $550.00
XM_006717002, 578817177 XP_006717065, 578817178 Fanconi anemia group C protein isoform X3 ORF Sequence $550.00
XM_006717003, 578817179 XP_006717066, 578817180 Fanconi anemia group C protein isoform X4 ORF Sequence $400.00
XM_006717004, 578817181 XP_006717067, 578817182 Fanconi anemia group C protein isoform X5 ORF Sequence $400.00
KEGG
hsa03460Fanconi anemia pathway
hsa_M00413FA core complex
Pathway Interaction Database
bard1pathwayBARD1 signaling events
Reactome
REACT_216DNA Repair
REACT_18410Fanconi Anemia pathway
Homo sapiens (human)FANCCNP_001230672.1
Pan troglodytes (chimpanzee)FANCCXP_001151049.1
Macaca mulatta (Rhesus monkey)FANCCXP_002800258.1
Canis lupus familiaris (dog)FANCCXP_848991.3
Bos taurus (cattle)FANCCNP_776741.1
Mus musculus (house mouse)FanccNP_001036138.1
Rattus norvegicus (Norway rat)FanccNP_036689.2
Gallus gallus (chicken)FANCCNP_001006587.2
Danio rerio (zebrafish)fanccNP_001035727.1
Xenopus (Silurana) tropicalis (western clawed frog)fanccXP_002935027.2
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:0005634nucleusTAS
GO:0005654nucleoplasmTAS
GO:0005737cytoplasmTAS
GO:0005829cytosolIDA
GO:0043240Fanconi anaemia nuclear complexIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards FANCC
UniProt Q00597, B4E3W2
Vega OTTHUMG00000020279
MIM 613899
Ensembl ENSG00000158169
HGNC 3584
HPRD 01967

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the FANCC gene?

The FANCC gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCC protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCC) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Interactant

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