RABGGTA
Description
The RABGGTA (Rab geranylgeranyltransferase subunit alpha) is a protein-coding gene located on chromosome 14.
RABGGTA, as part of a trimeric complex, is responsible for attaching a geranylgeranyl moiety to cysteine residues within Rab proteins, specifically those with a C-terminal sequence of -XXCC, -XCXC, or -CCXX. This process is crucial for the proper function of Rab proteins, including RAB1A, RAB3A, RAB5A, and RAB7A.
RABGGTA is also known as PTAR3.
Associated Diseases
- endometrial cancer
- urinary bladder cancer
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- alpha-thalassemia-myelodysplastic syndrome
- Bernard-Soulier syndrome
- alpha thalassemia-intellectual disability syndrome type 1
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hemoglobin D disease
- delta-beta-thalassemia
- X-linked severe congenital neutropenia
