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