DNA repair protein complementing XP-A cells is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''XPA''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
Nucleotide excision repair (NER) is a major pathway for repairing a variety of bulky
DNA damages including those introduced by UV irradiation. The XPA protein appears to play a key role in NER at sites of damage as a scaffold for other repair proteins in order to ensure that the damages are appropriately excised.
Among the repair proteins with which XPA interacts is a protein complex (including the
ERCC1
DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ''ERCC1'' gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
Many aspects of these two gene ...
protein) that is capable of incising DNA at sites of damage.
''Xpa'' mutant individuals often show the severe clinical symptoms of
xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in su ...
, a condition involving extreme sensitivity to sunlight and a high incidence of skin cancer.
Interactions
XPA has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
ERCC1
DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ''ERCC1'' gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
Many aspects of these two gene ...
,
Replication protein A1
Replication protein A 70 kDa DNA-binding subunit is a protein that in humans is encoded by the ''RPA1'' gene.
Interactions
Replication protein A1 has been shown to interact with:
* BRCA2,
* BLM,
* MCM2,
* MCM4,
* MCM6,
* MCM7,
* MUTYH, ...
and
XAB2
Pre-mRNA-splicing factor SYF1 is a protein that in humans is encoded by the ''XAB2'' gene.
Interactions
XAB2 has been shown to interact with ERCC8
DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ''ERCC8'' ge ...
.
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum
{{DNA repair