SZT2

Function

As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity).

Involvement in disease

Developmental and epileptic encephalopathy 18

DEE18

A severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brain, predominantly in the parietal and frontal cortex, as well as in dorsal root ganglia. Expressed in peripheral white blood cells.

Cellular localization

• Lysosome membrane
• Peroxisome
• Localization to lysosomes is amino acid-independent.

Alternative names

C1orf84, KIAA0467, SZT2, KICSTOR complex protein SZT2, Seizure threshold 2 protein homolog

Database links

swissprot:Q5T011 entrezGene:23334 genbank:BC052802 entrezGene:149469