FANCB

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FANCB
Identifiers
Aliases FANCB, FA2, FAAP90, FAAP95, FAB, FACB, Fanconi anemia complementation group B
External IDs MGI: 2448558 HomoloGene: 51880 GeneCards: FANCB
RNA expression pattern
PBB GE FANCB gnf1h06541 at fs.png

PBB GE FANCB gnf1h06542 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001018113
NM_152633
NM_001324162

NM_001146081
NM_175027

RefSeq (protein)

NP_001018123
NP_001311091
NP_689846

NP_001139553
NP_778192

Location (UCSC) Chr X: 14.84 – 14.87 Mb Chr X: 164.98 – 165 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.[3][4][5]

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.[5]

Meiosis[edit]

FANCB mutant mice are infertile and exhibit primordial germ cell defects during embryogenesis. The germ cells and testicular size are severely compromised in FANCB mutant mice.[6] FANCB protein is essential for spermatogenesis and likely has a role in the activation of the Fanconi anemia DNA repair pathway during meiosis.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. PMC 1715980Freely accessible. PMID 9382107. doi:10.1086/514881. 
  4. ^ 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. PMID 15502827. doi:10.1038/ng1458. 
  5. ^ a b "Entrez Gene: FANCB Fanconi anemia, complementation group B". 
  6. ^ a b Kato Y, Alavattam KG, Sin HS, Meetei AR, Pang Q, Andreassen PR, Namekawa SH (2015). "FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis". Hum. Mol. Genet. 24 (18): 5234–49. PMID 26123487. doi:10.1093/hmg/ddv244. 

Further reading[edit]