TBC1D31
Description
The TBC1D31 (TBC1 domain family member 31) is a protein-coding gene located on chromosome 8.
TBC1D31 is a molecular adapter protein that plays a crucial role in the development of cilia, the hair-like structures found on the surface of many cells. It is part of a complex that includes OFD1, a protein found in the centrioles, which are structures involved in the assembly of cilia. TBC1D31 may regulate the phosphorylation of OFD1 by cAMP-dependent protein kinases, and subsequent ubiquitination by PJA2, ultimately leading to the breakdown of OFD1 by proteasomes.
TBC1D31 is also known as Gm85, WDR67.
Associated Diseases
- Crigler-Najjar syndrome type 2
- maple syrup urine disease
- transient familial neonatal hyperbilirubinemia
- methylmalonic acidemia due to transcobalamin receptor defect
