RABGGTA encodes the alpha subunit of Rab geranylgeranyltransferase (GGTase II), an enzyme that catalyzes the transfer of geranylgeranyl groups to Rab proteins containing C-terminal cysteine motifs (-XXCC, -XCXC, -CCXX) such as RAB1A, RAB3A, RAB5A, and RAB7A. This post-translational modification is essential for proper membrane localization and function of Rab proteins, which regulate vesicular trafficking processes including endoplasmic reticulum to Golgi transport 1. The enzyme functions as part of the GGTase II complex and is crucial for cellular viability, as demonstrated by CRISPR screening identifying RABGGTA as essential for neuronal survival 2. RABGGTA plays important roles in glucose metabolism, where its knockdown impairs skeletal muscle glucose uptake independently of insulin signaling, contributing to statin-induced insulin resistance 3. Disease relevance includes dysregulated expression in multiple sclerosis patients, where RABGGTA is significantly upregulated 4, and altered expression in schizophrenia and neuromyelitis optica 56. The gene shows tissue-specific expression patterns and has been identified as a cardiac sodium-calcium exchanger interacting protein 7. Despite close chr14 proximity to TGM1, RABGGTA expression is independent of keratinocyte differentiation signals 8.
No tissue expression data available for this gene.