Contents

Search


Fanconi anemia group B protein; protein FACB; Fanconi anemia-associated polypeptide of 95 kDa; FAAP95 (FANCB)

Function: 1) DNA repair protein required for FANCD2 ubiquitination 2) component of multisubunit FA complex Compartment: nucleus Pathology: - defects in FANCB are the cause of cause of a) Fanconi anemia complementation group B b) X-linked VACTERL-H

Related

Fanconi anemia Fanconi anemia complementation group B

General

nuclear protein phosphoprotein protein subunit

Properties

SIZE: entity length = 859 aa MW = 98 kD COMPARTMENT: cell nucleus MOTIF: Thr phosphorylation site {T839}

Database Correlations

OMIM correlations UniProt Q8NB91 Entrez Gene 2187 Kegg hsa:2187

References

  1. UniProt :accession Q8NB91
  2. Fanconi Anemia mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpb.html
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCB

Component-of

Fanconi anemia complementation group complex (FA complex)