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

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

rs104886457 in AOPEP;FANCC gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

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

PMID 20869034 2010 Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

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

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

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

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

rs104886457 in AOPEP;FANCC gene and Fanconi Anemia PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

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

PMID 28425259 2017 IVS4+4A>T, del322G, and R548X, in FA patients.

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 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

rs104886457 in AOPEP;FANCC gene and Neoplastic Syndromes, Hereditary PMID 28425259 2017 Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.

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

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

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