STOML2
Description
The STOML2 (stomatin like 2) is a protein-coding gene located on chromosome 9.
Stomatin-like protein 2 is a protein that in humans is encoded by the STOML2 gene.
Stomatin-like protein 2 (SLP-2) is a mitochondrial protein that plays a role in regulating mitochondrial biogenesis and activity. It stimulates cardiolipin biosynthesis and binds to cardiolipin-enriched membranes, where it recruits and stabilizes proteins like prohibitin. This suggests a role in organizing functional microdomains within mitochondrial membranes. Through its influence on mitochondrial function, SLP-2 may participate in various biological processes, including cell migration, proliferation, T-cell activation, calcium homeostasis, and cellular stress response. Specifically, SLP-2 may contribute to calcium homeostasis by negatively regulating calcium efflux from mitochondria. It is essential for mitochondrial hyperfusion, a pro-survival response to stress that boosts mitochondrial ATP production. Additionally, SLP-2 might regulate functional domains at the plasma membrane and play a part in T-cell activation by interacting with the T-cell receptor signaling complex.
STOML2 is also known as HSPC108, SLP-2.
Associated Diseases
- Miyoshi myopathy
- hyperinsulinism due to INSR deficiency
- pentosuria
- hyperinsulinism due to glucokinase deficiency
- pituitary hormone deficiency, combined, 6
- spermatogenic failure 15
- hyperinsulinism-hyperammonemia syndrome
- spermatogenic failure 2
- Crigler-Najjar syndrome type 2
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
