FANCB

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Fanconi anemia, complementation group B
Identifiers
Symbols FANCB ; FA2; FAAP90; FAAP95; FAB; FACB
External IDs OMIM300515 MGI2448558 HomoloGene51880 GeneCards: FANCB Gene
RNA expression pattern
PBB GE FANCB gnf1h06541 at tn.png
PBB GE FANCB gnf1h06542 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2187 237211
Ensembl ENSG00000181544 ENSMUSG00000047757
UniProt Q8NB91 Q5XJY6
RefSeq (mRNA) NM_001018113 NM_001146081
RefSeq (protein) NP_001018123 NP_001139553
Location (UCSC) Chr X:
14.86 – 14.89 Mb
Chr X:
164.98 – 165 Mb
PubMed search [1] [2]

Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.[1][2][3]

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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 B. Alternative splicing results in two transcript variants encoding the same protein.[3]

References[edit]

  1. ^ Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA, Ebell W, van Weel M, Pronk JC, Buchwald M, Arwert F (Nov 1997). "Evidence for at least eight Fanconi anemia genes". Am J Hum Genet 61 (4): 940–4. doi:10.1086/514881. PMC 1715980. PMID 9382107. 
  2. ^ Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H (Oct 2004). "X-linked inheritance of Fanconi anemia complementation group B". Nat Genet 36 (11): 1219–24. doi:10.1038/ng1458. PMID 15502827. 
  3. ^ a b "Entrez Gene: FANCB Fanconi anemia, complementation group B". 

Further reading[edit]