Gene: FANCC

Alternate names for this Gene: FA3|FAC|FACC

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: FA complementation group C

Type of Gene: protein-coding

Gene: AOPEP

Alternate names for this Gene: AP-O|APO|C90RF3|C9orf3|ONPEP

Gene Summary: This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: aminopeptidase O (putative)

Type of Gene: protein-coding

rs104886458 in FANCC;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 24469828 2014 The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PMID 12093742 2002 FANCE: the link between Fanconi anaemia complex assembly and activity.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 9242535 1997 The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PMID 8703809 1996 Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.

PMID 26466335 2015 The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.

PMID 1574115 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

PMID 8882868 1996 Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 23634996 2013 Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 22720145 2012 Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

rs774209201 in FANCC;AOPEP gene and Fanconi Anemia PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.