Spartan (SPRTN) is a
protein that in humans is encoded by the ''SPRTN''
gene. It is involved in
DNA repair.
Ruijs-Aalfs syndrome
Ruijs-Aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years.
Signs and symptoms
The main features of this condition are evident in skeleton and faceLess ...
is an autosomal recessive
genetic disorder. Characteristics of this disorder are features of
premature aging,
chromosome instability
Chromosomal instability (CIN) is a type of genomic instability in which chromosomes are unstable, such that either whole chromosomes or parts of chromosomes are duplicated or deleted. More specifically, CIN refers to the increase in rate of additio ...
and development of
hepatocellular carcinoma
Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide.
It occurs in t ...
.
[Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi: 10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID: 31331820] Ruijs-Aalfs syndrome
Ruijs-Aalfs syndrome is a rare condition characterised by facial and skeletal abnormalities along with the development of hepatoma in the teenage years.
Signs and symptoms
The main features of this condition are evident in skeleton and faceLess ...
arises as a result of
mutations in the ''SPRTN'' gene that encodes a
metalloproteinase employed in the
repair of protein-linked
DNA breaks.
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]
References
Further reading
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