TBC1D22A
Description
The TBC1D22A (TBC1 domain family member 22A) is a protein-coding gene located on chromosome 22.
TBC1D22A might function as a GTPase-activating protein (GAP) for members of the Rab family, which are small GTPases involved in vesicular trafficking.
TBC1D22A is also known as C22orf4, HSC79E021.
Associated Diseases
- Rh deficiency syndrome
- IRIDA syndrome
- sitosterolemia
- pentosuria
- sideroblastic anemia 3
- dehydrated hereditary stomatocytosis
- congenital dyserythropoietic anemia type 4
- anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Fanconi anemia complementation group V
