SEPTIN6

Gene

1 paper studies it3 findings

1 new paper in 30 daysSee all 1

None of its findings points the other way.

1 lab in 1 country

Cells1

Effects

Hematopoietic stem and progenitor cell defects

downin human cells1

1 study

SEPTIN6 decreases hematopoietic stem and progenitor cell defects in human cells.
“Introduction of the SM in cis with GM1 mitigated all observed defects.”
Cellssomatic SEPTIN6 c.43C>T introduced in cis with GM1hematopoietic stem and progenitor cells
Gene variants made human blood-forming cells stop dividing early
JCI insightOct 22, 2026

Mitochondrial abnormalities

upin human cells1

1 study

SEPTIN6 induces mitochondrial abnormalities in human cells.
“HSPCs exhibited marked mitochondrial abnormalities, including increased expression of OPA-1, a key regulator of mitochondrial fusion, and enhanced oxygen consumption during mitochondrial respiration.”
CellsGM1 or GM2 mutationhematopoietic stem and progenitor cells
Gene variants made human blood-forming cells stop dividing early
JCI insightOct 22, 2026

Cellular senescence

upin human cells1

1 study

SEPTIN6 induces cellular senescence in human cells.
“enlarged, multinucleated cells associated with accelerated exhaustion and premature senescence of hematopoietic stem and progenitor cells (HSPCs).”
Cellstransgenic expression or gene editing of GM1 or GM2hematopoietic stem and progenitor cells
Gene variants made human blood-forming cells stop dividing early
JCI insightOct 22, 2026

Latest

1 paper in 12 months

JCI InsightOct 23

Gene variants made human blood-forming cells stop dividing early

In experiments with human blood-forming cells, an additional mutation reduced the defects caused by one inherited variant.In experiments with human blood-forming cells, an additional mutation reduced the defects caused by one inherited variant.

Human cell studyMechanisms

Paper

SEPTIN6

Effects

Latest

Gene variants made human blood-forming cells stop dividing early

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