Septin-9 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, respon ...
that in humans is encoded by the ''SEPT9''
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 ...
.
Interactions
SEPT9 has been shown to
interact with
SEPT2 and
SEPT7.
[
]
Function
Along with AHNAK
Neuroblast differentiation-associated protein AHNAK, also known as desmoyokin, is a protein that in humans is encoded by the ''AHNAK'' gene. AHNAK was originally identified in 1989 (in bovine muzzle epidermal cells) and named desmoyokin due to its ...
, eIF4E
Eukaryotic translation initiation factor 4E, also known as eIF4E, is a protein that in humans is encoded by the ''EIF4E'' gene.
Structure and function
Most eukaryotic cellular mRNAs are blocked at their 5'-ends with the 7-methyl- guanosine ...
and S100A11, SEPT9 has been shown to be essential for pseudopod protrusion, tumor cell migration and invasion.
Clinical significance
The v2 region of the SEPT9 promoter has been shown to be methylated in colorectal cancer tissue compared with normal colonic mucosa. Using highly sensitive real time PCR assays, methylated SEPT9 was detected in the blood of colorectal cancer patients. This alternate methylation pattern in cancer samples is suggestive of an aberrant activation or repression of the gene compared to normal tissue samples.
Testing to detect methylated SEPT9 is not indicated as a first option for colorectal cancer screening.[, which cites
*
* ] It is similar in specificity and sensitivity to the stool guaiac test or fecal immune tests, and those tests should be used in preference. In cases when the physician aggressively has recommended a colonoscopy and the patient has declined that and these other tests, then this test has advantages over patients having no screening at all.
See also
* Hereditary neuralgic amyotrophy
Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. In about half of the cases it is associated with a mutation of the ''SEPT9'' gene (17q25). While not mu ...
References
Further reading
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