Gene: FANCB

Alternate names for this Gene: FA2|FAAP90|FAAP95|FAB|FACB

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: FA complementation group B

Type of Gene: protein-coding

rs1569083185 in FANCB gene and FANCONI ANEMIA, COMPLEMENTATION GROUP B PMID 21910217 2011 X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.

PMID 15502827 2004 X-linked inheritance of Fanconi anemia complementation group B.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 16679491 2006 Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.

rs138331350 in FANCB gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.