Association·arcadia

HEM1 deficiency disrupts mTORC2/F-actin and leads to immunodysregulation

Claim that HEM1 deficiency disrupts mTORC2 and F-actin regulation, leading to inherited immunodysregulatory disease.

Confidence
80%
active

Evidence Quote

“HEM1 deficiency disrupts mTORC2/F-actin control in immunodysregulatory disease.”

Relationship

NCKAP1L protein disrupts mTORC2 and F-actin regulation in immunity

Arguments

NCKAP1L proteinsubject
mTORC2 and F-actin regulation in immunityobject

Connections (1)

SMN1 protein mutation causes SMAAssociation

Evidence

“Reference to Cook et al. (2020) on HEM1 (NCKAP1L) deficiency affecting actin and immunity.”

Cook SA et al. (2020). HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease doi:10.1126/science.aay5663 ↗