Download Genes Section FACC (Fanconi anaemia complementation group C) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Genes Section
Short Communication
FACC (Fanconi anaemia complementation
group C)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Published in Atlas Database: February 1998
Online version is available at: http://AtlasGeneticsOncology.org/Genes/FACC101.html
DOI: 10.4267/2042/32097
This work is licensed under a Creative Commons Attribution-Non commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Function
Identity
Peak expression during the G2/M transition; binds to
cdc2 (mitotic cyclin-dependent kinase); probably
involved in basic aspect(s) of the cell protection against
DNA damages: role in the cell cycle regulation and/or
in DNA repair and/or in the prevention of cellular
apoptosis; binds to FAA, the protein encoded by FA1
(Fanconi anaemia complementation group A), the
dimer being found in the cytoplasm and the nucleus.
Other names: FAC
Location: in 9q22.3
Local order: next to PTCH and XPAC.
Homology
No known homology.
Mutations
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular
Cytogenetics.
Germinal
DNA/RNA
Mainly nucleotide substitutions, dispersed along the
coding sequence.
Description
Implicated in
14 exons; spans 80 kb.
Fanconi anaemia; FACC is implicated in
the FA complementation group C
Transcription
mRNA of 2.3, 3.2, and 4.6 kb (variable 3' untranslated
region, alternative splicing, exon skipping).
Disease
Fanconi anaemia is a chromosome instability
syndrome/cancer prone disease (at risk of leukaemia).
Protein
Prognosis
Poor; mean survival is 16 years: patients die of bone
marrow failure (infections, haemorrhages), leukaemia,
or androgen therapy related liver tumours.
Description
558 amino acids; 63 kDa; alpha helical structure in Cterm.
Cytogenetics
Expression
Spontaneous, chromatid/chromosome breaks; increased
rate of breaks compared to control, when induced by
breaking agent.
Wide, in particular in the bones.
Localisation
References
Cytoplasmic at any cell-cycle stage.
Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning
of
cDNAs
for
Fanconi's
anaemia
by
functional
complementation. Nature 1992;356:763-767.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
10
FACC (Fanconi anaemia complementation group C)
Huret JL
Gibson RA, Buchwald M, Roberts RG, Mathew CG.
Characterisation of the exon structure of the Fanconi anaemia
group C gene by vectorette PCR. Hum Mol Genet 1993;2:3538.
Kupfer GM, Näf D, Suliman A, Pulsipher M, D'Andrea AD. The
Fanconi anaemia proteins, FAA and FAC, interact to form a
nuclear complex. Nat Genet 1997 Dec;17(4):487-90.
D'Andrea AD, Grompe M. Molecular biology of Fanconi
anemia: implications for diagnosis and therapy. Blood
1997;90(5):1725-36.
This article should be referenced as such:
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
Huret JL. FACC (Fanconi anaemia complementation group C).
Atlas Genet Cytogenet Oncol Haematol.1998;2(1):10-11.
11