Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease

FEBS Letters

Seabra, Miguel C¹  Pereira-Leal, José B¹  Hume, Alistair N¹ 

[1] Cell and Molecular Biology Section, Division of Biomedical Sciences, Imperial College School of Medicine, Sir Alexander Fleming Building, Exhibition Road, London SW7 2AZ, UK

关键词: Rab;    GTP-binding protein;    Protein prenylation;    Protein traffic;    Choroideremia;    Hermansky–Pudlak syndrome;    Griscelli disease;   

DOI  :  10.1016/S0014-5793(01)02483-8

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Small GTPases of the Rab family regulate membrane transport pathways. More than 50 mammalian Rab proteins are known, many with transport step-specific localisation. Rabs must associate with cellular membranes for activity and membrane attachment is mediated by prenyl (geranylgeranyl) post-translational modification. Mutations in genes encoding proteins essential for the geranylgeranylation reaction, Rab escort protein and Rab geranylgeranyl transferase, underlie genetic diseases. Choroideremia patients have loss of function mutations in REP1 and the murine Hermansky–Pudlak syndrome model gunmetal possesses a splice-site mutation in the α-subunit of RGGT. Here we discuss recent insights into Rab prenylation and advances towards our understanding of both diseases.

【 授权许可】

Unknown