FANCB gene

Fanconi anemia complementation group B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]

From UniProt:

DNA repair protein required for FANCD2 ubiquitination.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Tracheoesophageal fistula
  • VACTERL association with hydrocephaly, X-linked
  • Fanconi anemia, complementation group B

From UniProt:

Fanconi anemia complementation group B (FANCB): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. [MIM:300514]

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2

Molecular Location: base pairs 14,690,863 to 14,873,255 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2
  • FA2
  • FAAP90
  • FAAP95
  • FAB
  • FACB