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: LOC107987102

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs121917785 in FANCC;LOC107987102;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

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

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

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

PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

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

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