FANC proteins are a group of proteins associated with
Fanconi anemia
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of nor ...
.
They are involved in
DNA replication
In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all living organisms acting as the most essential part for biological inherita ...
and damage response.
Components include:
* ''core protein complex'' (
FANCA
Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the ''FANCA'' gene. It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation ...
,
FANCB
Fanconi anemia group B protein is a protein that in humans is encoded by the ''FANCB'' gene.
Function
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, ...
,
FANCC
Fanconi anemia group C protein is a protein that in humans is encoded by the ''FANCC'' gene.
Structure
Function
The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. ...
,
FANCE
Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the ''FANCE'' gene. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, ...
,
FANCF
Fanconi anemia group F protein is a protein that in humans is encoded by the ''FANCF'' gene.
Interactions
FANCF has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCA and FANCE.
Function
FANCF is an adaptor ...
,
FANCG
Fanconi anemia group G protein is a protein that in humans is encoded by the ''FANCG'' gene.
Function
FANCG, involved in Fanconi anemia, confers resistance to both hygromycin B and mitomycin C. FANCG contains a 5-prime GC-rich untranslated ...
,
FANCL
E3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the ''FANCL'' gene.
Function
The clinical phenotype of mutational defects in all Fanconi anemia (FA) complementation groups is similar. This phenotype is characteriz ...
,
FANCM
Fanconi anemia, complementation group M, also known as FANCM is a human gene. It is an emerging target in cancer therapy, in particular cancers with specific genetic deficiencies.
Function
The protein encoded by this gene, FANCM displays DNA bi ...
)
* other:
FANCD1
''BRCA2'' and BRCA2 () are a human gene and its protein product, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associated) ...
,
FANCD2
Fanconi anemia group D2 protein is a protein that in humans is encoded by the ''FANCD2'' gene. The Fanconi anemia complementation group ( FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2 (this gene), FANCE, FANCF ...
,
FANCI
Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the ''FANCI'' gene. Mutations in the ''FANCI'' gene are known to cause Fanconi anemia.
Function
The Fanconi anemia complementat ...
,
FANCJ
Fanconi anemia group J protein is a protein that in humans is encoded by the ''BRCA1-interacting protein 1'' (''BRIP1'') gene.
Function
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT r ...
,
FANCN
Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by the ''PALB2'' gene.
Function
This gene encodes a protein that functions in genome maintenance ( double strand break repair). This prote ...
,
FANCP
SLX4 (also known as BTBD12 and FANCP) is a protein involved in DNA repair, where it has important roles in the final steps of homologous recombination. Mutations in the gene are associated with the disease Fanconi anemia.
The version of SLX4 pres ...
References
DNA repair
Protein families
{{Protein-stub