TBC1D30
Description
The TBC1D30 (TBC1 domain family member 30) is a protein-coding gene located on chromosome 12.
TBC1D30 is a gene located on human chromosome 12, specifically at 12q14.3. It encodes a protein with two domains: the RabGAP-TBC domain and the DUF4682 domain. The gene spans a large portion of the genome (100,076 base pairs) but is condensed into a smaller mRNA transcript (7,931 bp) and ultimately translates into a protein with 944 amino acids. The protein is expressed primarily in the brain and adrenal cortex. There are 9 known isoforms of TBC1D30, with the majority based on the reference genome. While the exact function of this gene is not fully understood, its domains suggest involvement in the regulation of Rab proteins, which are key players in intracellular vesicle trafficking.
TBC1D30 may function as a GTPase-activating protein (GAP) for Rab family proteins.
TBC1D30 is also known as -.
