Trisha Shetty (Editor)

FANCB

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Species
  
Human

Entrez
  
2187

Human
  
Mouse

Ensembl
  
ENSG00000181544

FANCB

Aliases
  
FANCB, FA2, FAAP90, FAAP95, FAB, FACB, Fanconi anemia complementation group B

External IDs
  
MGI: 2448558 HomoloGene: 51880 GeneCards: FANCB

Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene.

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.

Meiosis

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. FANCB protein is essential for spermatogenesis and likely has a role in the activation of the Fanconi anemia DNA repair pathway during meiosis.

References

FANCB Wikipedia