FANCB Antibody

1. We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). PMID: 29193904
2. Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function. PMID: 29491055
3. Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. PMID: 21910217
4. Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC. PMID: 20332657
5. Elevated serum FA-2 was associated with bony metastases from breast cancer. PMID: 20465790
6. the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2 PMID: 15502827
7. summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review] PMID: 15611632
8. Mutations in FANCB are a cause of X linked VACTERL-H syndrome. PMID: 16679491
9. Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells PMID: 17903171
10. Our results rule out a major contribution of FANCB to hereditary breast cancer. PMID: 18302019

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HGNC: 3583

OMIM: 300514

KEGG: hsa:2187

STRING: 9606.ENSP00000326819

UniGene: Hs.554740