TBC1D10A
Description
The TBC1D10A (TBC1 domain family member 10A) is a protein-coding gene located on chromosome 22.
TBC1 domain family member 10A is a protein encoded by the TBC1D10A gene in humans.
TBC1D10A acts as a GTPase-activating protein (GAP) specifically for RAB27A. This means it helps to switch off the activity of RAB27A by promoting the hydrolysis of GTP to GDP. Notably, it does not act as a GAP for other RAB proteins, including RAB2A, RAB3A, and RAB4A.
TBC1D10A is also known as EPI64, TBC1D10, dJ130H16.1, dJ130H16.2.
Associated Diseases
- combined low LDL and fibrinogen
- Crigler-Najjar syndrome type 2
- TMEM199-CDG
- isolated asymptomatic elevation of creatine phosphokinase
- dimethylglycine dehydrogenase deficiency
- glycine N-methyltransferase deficiency
