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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
- UniProt :accession Q8NB91
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpb.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCB
Component-of
Fanconi anemia complementation group complex (FA complex)