Anti-TBCK antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

TBCK also known as TBC1 domain-containing kinase has a molecular mass of approximately 139 kDa. It is a serine/threonine kinase that regulates protein phosphorylation important for normal cellular functions. TBCK is expressed in various tissues with significant expression levels observed in the brain and testis. This distribution hints at its functions in specialized cellular processes in these organs.

Biological function summary

TBCK influences cell growth differentiation and autophagy. It might be part of specific protein complexes involved in the mTOR signaling pathway which governs cell proliferation and survival by relaying growth signals. By interacting with other proteins TBCK plays a regulatory role in these critical cellular functions impacting overall cellular homeostasis.

Pathways

TBCK is an integral component of the mTOR and insulin signaling pathways. These pathways are central to nutrient sensing and energy balance in cells. Within these pathways TBCK interactions include phosphorylation of downstream targets such as S6K1 which is essential for protein synthesis. Through its regulatory role TBCK maintains balance and coordination with other proteins like Akt further influencing cellular metabolic responses.

Associated diseases and disorders

Mutations or dysregulation in the TBCK gene associate with TBCK-related encephalopathy and neurodevelopmental disorders. Alterations in its normal function can disrupt mTOR signaling impacting neural function and development. TBCK is potentially linked to disorders like autism spectrum disorder with connections through proteins such as TSC1 and TSC2 which also play a part in mTOR pathway regulation. Understanding TBCK's role in these conditions offers insight into potential therapeutic targets.