Gene: ZNF276

Alternate names for this Gene: CENP-Z|CENPZ|ZADT|ZFP276|ZNF477

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: zinc finger protein 276

Type of Gene: protein-coding

Gene: FANCA

Alternate names for this Gene: FA|FA-H|FA1|FAA|FACA|FAH|FANCH

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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: FA complementation group A

Type of Gene: protein-coding

rs1555534579 in ZNF276;FANCA gene and FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) PMID 9929978 1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.

PMID 9399890 1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PMID 10807541 2000 Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

PMID 10094191 1999 Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PMID 10521298 1999 High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PMID 11091222 2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

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

PMID 10210316 1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PMID 12444097 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

PMID 23973728 2013 Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

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 15523645 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

PMID 27041517 2016 Profiling Fanconi Anemia Gene Mutations among Iranian Patients.

PMID 23934222 2013 Fanconi anemia signaling network regulates the spindle assembly checkpoint.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 26366677 2015 FANCA safeguards interphase and mitosis during hematopoiesis in vivo.

PMID 24037726 2013 Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

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

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

PMID 15059067 2004 Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

rs397507553 in ZNF276;FANCA gene and Fanconi Anemia PMID 15643609 2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

PMID 21273304 2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

PMID 9371798 1997 Sequence variation in the Fanconi anemia gene FAA.